ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4890G>A (p.Val1630=)

gnomAD frequency: 0.00006  dbSNP: rs144069822
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871444 SCV001013108 likely benign Cohen syndrome 2025-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871444 SCV002082558 likely benign Cohen syndrome 2021-01-20 no assertion criteria provided clinical testing

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