ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10255T>C (p.Cys3419Arg)

gnomAD frequency: 0.00001  dbSNP: rs188030143
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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 RCV002020505 SCV002287675 uncertain significance Cohen syndrome 2021-08-26 criteria provided, single submitter clinical testing

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