ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4827C>T (p.Ile1609=)

dbSNP: rs2133764753
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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 RCV001410709 SCV001612760 likely benign Cohen syndrome 2021-02-26 criteria provided, single submitter clinical testing

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