ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4812A>C (p.Ile1604=)

dbSNP: rs1824574633
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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 RCV002192187 SCV002347868 likely benign Cohen syndrome 2024-01-09 criteria provided, single submitter clinical testing

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