ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)

gnomAD frequency: 0.00002  dbSNP: rs760171272
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
Invitae RCV000904163 SCV001048667 likely benign Cohen syndrome 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904163 SCV001454219 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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