ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe)

dbSNP: rs116746734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262224 SCV000470846 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000262224 SCV000796888 uncertain significance Cohen syndrome 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001753838 SCV001988112 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing Not observed 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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