ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2427+13C>T

dbSNP: rs190798929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147587 SCV000195036 uncertain significance Cornelia de Lange syndrome 3 2013-02-08 criteria provided, single submitter clinical testing

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