ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.807A>G (p.Gln269=)

dbSNP: rs775213704
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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 RCV001480732 SCV001685055 likely benign Cohen syndrome 2022-02-04 criteria provided, single submitter clinical testing

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