ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp)

gnomAD frequency: 0.00002  dbSNP: rs771132013
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769936 SCV002004874 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001769936 SCV004652412 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing

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