ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.630T>C (p.Val210=)

dbSNP: rs2132481732
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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 RCV001493744 SCV001698380 likely benign Cohen syndrome 2020-03-14 criteria provided, single submitter clinical testing

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