TABLE 1.

Description of the data fields for each database entry underlying the Rx‐genes.com (https://www.rx‐genes.com/) website and mobile device application

Data field	Data field description
Disease name	Uses the disease name designation in OMIM where possible.
Gene name	Uses the symbol assigned by the HUGO gene nomenclature Committee at the European Bioinformatics Institute (https://www.genenames.org/ ).
Current treatment	Lists treatment approaches that a physician should consider.
Evidence for treatment	Indicates whether treatment is supported by a published guideline or relies on expert opinion.
Guideline reference 1 and guideline reference 2	Provides references when a disorder has published treatment guidelines.
Reference 1 and reference 2	Provides general information and treatment guidance for the genetic disorder.
ClinGen clinical actionability report	Provides information and treatment guidance for the genetic disorder developed by ClinGen and found in the actionability knowledge repository (https://actionability.clinicalgenome.org/ac/) .
Inheritance	Uses AR for autosomal recessive, AD for autosomal dominant and XL for X‐linked.
Disease frequency	Provides an estimate of the disease prevalence. Where possible a birth prevalence is provided. When there is a range of prevalence figures an average of the highest and lowest values is used.
Genes included in disease frequency	Contains the list of genes included in the disease frequency estimate.
Disease frequency reference 1 and disease frequency reference 2	Provides sources of the prevalence figures.
Is nonmolecular testing available to confirm a molecular diagnosis?	This is answered in the affirmative when the test involves a readily obtained sample such as blood, urine, cerebrospinal fluid, and bone marrow aspirate or involves a noninvasive procedure such as an MRI or ophthalmologic examination. Additionally, the test must be generally available. These tests are particularly important when the patient's phenotype combined with a molecular test that finds a variant of uncertain significance, do not provide enough information for a physician to make a treatment recommendation such as a hematopoietic stem cell transplant. Confirmatory tests performed in research laboratories and assays that require invasive procedures such as skin biopsy, liver biopsy, kidney biopsy, and brain biopsy are not considered as “available” tests as they require special procedures and handling and testing laboratories are not generally available.
Nonmolecular confirmatory testings	Lists the test or tests that can be used to confirm a molecular test.
Nonmolecular confirmatory test reference	Provides a reference for the confirmatory test(s).
Experimental treatment	Provides a link to clinical trials at clinicaltrials.gov (https://clinicaltrials.gov/) for experimental treatments.