ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.207A>T (p.Val69=)

gnomAD frequency: 0.00001  dbSNP: rs772922484
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 RCV001279379 SCV001709456 likely benign Cohen syndrome 2023-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279379 SCV001466468 uncertain significance Cohen syndrome 2020-08-14 no assertion criteria provided clinical testing

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