ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3909A>T (p.Ser1303=)

gnomAD frequency: 0.00001  dbSNP: rs779666289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408756 SCV001610763 likely benign Cohen syndrome 2022-09-27 criteria provided, single submitter clinical testing

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