ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.114C>T (p.Ser38=)

gnomAD frequency: 0.00001  dbSNP: rs768496696
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 RCV001057763 SCV001222275 likely benign Cohen syndrome 2023-12-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001057763 SCV002079421 uncertain significance Cohen syndrome 2020-07-29 no assertion criteria provided clinical testing

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