ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys)

gnomAD frequency: 0.00005  dbSNP: rs777661211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064502 SCV001229408 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001064502 SCV002007099 uncertain significance not provided 2020-05-13 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

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