ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17914G>A (p.Ala5972Thr)

gnomAD frequency: 0.00001  dbSNP: rs771239507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003848563 SCV004694138 benign not provided 2024-02-15 criteria provided, single submitter clinical testing
GeneDx RCV003848563 SCV005908761 uncertain significance not provided 2024-10-09 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

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