ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7917C>T (p.Ser2639=)

dbSNP: rs2130702727
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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 RCV002189125 SCV002482324 likely benign Cohen syndrome 2021-08-17 criteria provided, single submitter clinical testing

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