Table 2.

Useful Resources

Resource (URL)	Description
American College of Medical Genetics and Genomics practice guidelines (www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/Practice-Guidelines.aspx)	Provides up-to-date clinical guidelines on genetic testing for specific pediatric and adult conditions, as well as guidelines on predisposition testing; carrier screening; and preconception, prenatal, and newborn genetic screening.
ClinVar (www.ncbi.nlm.nih.gov/clinvar)	Provides expert-graded evidence for strength of association between a gene and a disease based on available literature, including the number of reported cases with variants in a disease-causing gene and supporting experimental data. Each variant is accompanied by assertions about its pathogenicity (or lack thereof) for the associated disease phenotype. The number of stars accompanying an entry reflects the strength of the evidence supporting the classification.
Online Mendelian Inheritance in Man (https://omim.org)	A complete database of Mendelian disorders derived from curation of the primary literature; includes phenotypic features, associated genes, and reported causal variants with references.
Genome Aggregation Database (http://gnomad.broadinstitute.org)	A sequence repository that includes whole-exome sequencing data from 123 136 unrelated persons and whole-genome sequencing data from 15 496 unrelated persons; provides estimates of population frequencies across 7 major global populations; excludes related persons and those with severe early-onset disorders but includes persons affected by various adult-onset diseases.