ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5221-5T>C

gnomAD frequency: 0.00001  dbSNP: rs761788793
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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
Invitae RCV001275327 SCV001664320 likely benign Cohen syndrome 2023-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275327 SCV001460386 uncertain significance Cohen syndrome 2020-03-11 no assertion criteria provided clinical testing

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