ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.1509+16del

dbSNP: rs2493126486
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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 RCV003503383 SCV004331399 benign Cornelia de Lange syndrome 3 2023-07-13 criteria provided, single submitter clinical testing

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