ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)

gnomAD frequency: 0.00004  dbSNP: rs760377055
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 RCV000878983 SCV001021990 likely benign Cohen syndrome 2023-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000878983 SCV001454487 uncertain significance Cohen syndrome 2020-03-17 no assertion criteria provided clinical testing

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