ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)

gnomAD frequency: 0.00004  dbSNP: rs773474909
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000877683 SCV001020459 likely benign Cohen syndrome 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000877683 SCV001454472 uncertain significance Cohen syndrome 2020-03-17 no assertion criteria provided clinical testing

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