ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.273C>T (p.Ile91=)

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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 RCV003611303 SCV004506741 likely benign Cornelia de Lange syndrome 3 2023-03-21 criteria provided, single submitter clinical testing

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