ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu)

dbSNP: rs180177370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001705716 SCV001934459 uncertain significance Cohen syndrome 2021-02-26 criteria provided, single submitter clinical testing
SNPedia RCV000058906 SCV000090427 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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