ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)

gnomAD frequency: 0.45079  dbSNP: rs2247870
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Total submissions: 9
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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 RCV000039547 SCV000063236 benign not specified 2010-09-02 criteria provided, single submitter clinical testing This variant is a common benign variant present in roughly half of the general p opulation (dbSNP - rs2247870).
PreventionGenetics, part of Exact Sciences RCV000039547 SCV000314857 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039547 SCV000863228 benign not specified 2018-09-06 criteria provided, single submitter clinical testing
Mendelics RCV000987543 SCV001136859 benign Usher syndrome type 2C 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000987543 SCV001317509 benign Usher syndrome type 2C 2018-01-13 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 RCV001509777 SCV001716649 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001509777 SCV001909513 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28991256)
Genome-Nilou Lab RCV000987543 SCV001933931 benign Usher syndrome type 2C 2021-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039547 SCV000193247 likely benign not specified no assertion criteria provided clinical testing

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