ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9782C>T (p.Ser3261Phe)

gnomAD frequency: 0.00001  dbSNP: rs1372759268
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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 RCV001952760 SCV002215539 uncertain significance Cohen syndrome 2021-08-28 criteria provided, single submitter clinical testing
GeneDx RCV004591646 SCV005080699 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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