ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter)

dbSNP: rs1554645551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522156 SCV000619166 pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003133304 SCV003816587 likely pathogenic Cohen syndrome 2022-07-08 criteria provided, single submitter clinical testing

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