ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)

gnomAD frequency: 0.00001  dbSNP: rs765209957
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 RCV000873960 SCV001016063 likely benign Cohen syndrome 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873960 SCV001460391 uncertain significance Cohen syndrome 2020-02-13 no assertion criteria provided clinical testing

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