ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)

gnomAD frequency: 0.00001  dbSNP: rs1847925535
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 RCV001060491 SCV001225183 likely benign Cohen syndrome 2023-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001060491 SCV002079459 uncertain significance Cohen syndrome 2021-02-17 no assertion criteria provided clinical testing

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