ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)

gnomAD frequency: 0.00002  dbSNP: rs189680814
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000928969 SCV001074592 likely benign Cohen syndrome 2024-10-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000928969 SCV001461452 uncertain significance Cohen syndrome 2020-02-13 no assertion criteria provided clinical testing

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