ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu)

gnomAD frequency: 0.00001  dbSNP: rs779782582
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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 RCV001298743 SCV001487810 benign Cohen syndrome 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV004778049 SCV005392025 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates 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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