ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7294G>A (p.Val2432Met)

gnomAD frequency: 0.00011  dbSNP: rs111033531
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Total submissions: 4
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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 RCV000039625 SCV000063314 likely benign not specified 2010-02-04 criteria provided, single submitter clinical testing
Invitae RCV001297121 SCV001486107 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001297121 SCV001796286 likely benign not provided 2020-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002513552 SCV003721216 likely benign Inborn genetic diseases 2021-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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