Table 2.

Presence in disease databases

Database	Present	Absent	Percent Absent
ClinVar submission driven database of genomic variants and their relationship to health (PMID: 29165669)	103	76	42.5%
Denovodb collection of germline de novo variants identified in the human genome from the published literature (including preprints) (https://denovo-db.gs.washington.edu/) SNV Only	12	151	92.6%
Varicarta database of variants identified in individuals diagnosed with Autism Spectrum Disorder (ASD) and reported in peer-reviewed, published literature. (PMID: 3170562) SNV Only	13	150	92.0%
ADMI DB resource for researchers and clinicians that provides genotype and phenotype data from neurodevelopmental disorders obtained from published literature (PMID: 26817790)	18	161	89.9%
LitVar resource that searches and retrieves variant information from the biomedical literature SNV Only	30	133	81.6%
DECIPHER database contains data from 42,678 patients with rare disease who have given consent for broad data sharing (PMID: 19344873)	22	157	87.7%
HGMD Professional collection of published germline variants in nuclear genes that are thought to be associated with human disease (PMID: 32596782)	68	111	62.0%
All Databases	117	62	34.6%

Disease databases analyzed for presence or absence of variants, together with descriptions of each of the databases. N = 179 variants.

HGMD, Human Gene Mutation Database; SNV, single nucleotide variants.