ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.789-15C>T (rs147791932)

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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 RCV000147574 SCV000195023 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2013-02-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529468 SCV001742979 likely benign not provided no assertion criteria provided clinical testing
GeneDx RCV001529468 SCV001791457 likely benign not provided 2018-07-17 no assertion criteria provided clinical testing

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