ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3738C>G (p.Leu1246=)

dbSNP: rs1465822174
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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 RCV002107105 SCV002329358 likely benign Cohen syndrome 2021-04-06 criteria provided, single submitter clinical testing

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