ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5490C>G (p.Ala1830=)

dbSNP: rs1829392538
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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 RCV002210653 SCV002495296 likely benign Cohen syndrome 2023-06-14 criteria provided, single submitter clinical testing

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