ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10475C>T (p.Ser3492Phe)

gnomAD frequency: 0.00005  dbSNP: rs375619656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236881 SCV001409621 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001236881 SCV002008377 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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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