ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1823C>T (p.Pro608Leu)

gnomAD frequency: 0.00001  dbSNP: rs2132581494
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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 RCV002020942 SCV002298232 uncertain significance Cohen syndrome 2021-09-01 criteria provided, single submitter clinical testing

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