ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.*14C>T (rs112727682)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147547 SCV000194994 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362555 SCV000482658 likely benign De Lange syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719960 SCV000850834 uncertain significance History of neurodevelopmental disorder 2013-01-10 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.

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