ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg)

gnomAD frequency: 0.00011  dbSNP: rs770802961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233832 SCV001406445 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001233832 SCV002013456 uncertain significance not provided 2024-12-11 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004033216 SCV004861571 likely benign Inborn genetic diseases 2023-10-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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