ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2733T>C (p.Asn911=)

gnomAD frequency: 0.00001  dbSNP: rs1818828803
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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 RCV002074740 SCV002430657 likely benign Cohen syndrome 2021-12-02 criteria provided, single submitter clinical testing

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