ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2733T>C (p.His911=)

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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 RCV003612982 SCV004553662 likely benign Cornelia de Lange syndrome 3 2023-04-03 criteria provided, single submitter clinical testing

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