ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2645-8del

dbSNP: rs746069363
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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 RCV003611306 SCV004507283 benign Cornelia de Lange syndrome 3 2023-02-22 criteria provided, single submitter clinical testing

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