ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)

gnomAD frequency: 0.05741  dbSNP: rs17543819
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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 RCV000039585 SCV000063274 benign not specified 2010-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000039585 SCV000168746 benign not specified 2013-01-14 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.
Athena Diagnostics RCV000086995 SCV000840669 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001151339 SCV001312460 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000086995 SCV001731195 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483006 SCV002797810 benign Usher syndrome type 2C; Febrile seizures, familial, 4 2021-08-11 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086995 SCV000119248 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000039585 SCV000193268 likely benign not specified no assertion criteria provided clinical testing

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