ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4596T>G (p.Phe1532Leu)

dbSNP: rs1198827619
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297070 SCV001486053 uncertain significance Cohen syndrome 2021-09-02 criteria provided, single submitter clinical testing

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