ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4047T>G (p.Val1349=)

dbSNP: rs1004879836
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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 RCV001412273 SCV001614354 likely benign Cohen syndrome 2024-11-04 criteria provided, single submitter clinical testing

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