ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=)

gnomAD frequency: 0.00001  dbSNP: rs1334078728
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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 RCV001490641 SCV001695211 likely benign Cohen syndrome 2024-04-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001490641 SCV002082717 likely benign Cohen syndrome 2020-10-12 no assertion criteria provided clinical testing

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