ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.1407A>G (p.Arg469=)

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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 RCV003053368 SCV003451250 likely benign Cornelia de Lange syndrome 3 2024-07-29 criteria provided, single submitter clinical testing

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