ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)

gnomAD frequency: 0.32486  dbSNP: rs4916685
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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 RCV000039601 SCV000063290 benign not specified 2010-03-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039601 SCV000228651 benign not specified 2014-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000039601 SCV000314869 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154481 SCV001315849 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 RCV001509771 SCV001716642 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001509771 SCV001833667 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477114 SCV002797763 benign Usher syndrome type 2C; Febrile seizures, familial, 4 2021-08-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039601 SCV000193277 likely benign not specified no assertion criteria provided clinical testing

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