ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4681G>A (p.Ala1561Thr)

gnomAD frequency: 0.00009  dbSNP: rs376316770
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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 RCV001358959 SCV001554816 likely benign not provided 2024-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001358959 SCV004035473 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing In silico analysis supports 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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