ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=)

gnomAD frequency: 0.03213  dbSNP: rs17624033
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039508 SCV000063197 benign not specified 2011-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000039508 SCV000168720 benign not specified 2013-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000039508 SCV000314848 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039508 SCV000612275 benign not specified 2017-07-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157311 SCV001318870 benign Usher syndrome type 2C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000086992 SCV001721192 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086992 SCV000119245 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000039508 SCV000193224 likely benign not specified no assertion criteria provided clinical testing

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