ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=)

dbSNP: rs61753726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001279779 SCV001664294 likely benign Cohen syndrome 2025-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279779 SCV001466902 uncertain significance Cohen syndrome 2020-08-16 no assertion criteria provided clinical testing

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