ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) (rs142611198)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717906 SCV000848766 likely benign History of neurodevelopmental disorder 2016-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147567 SCV000228061 benign not specified 2015-02-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147567 SCV000195015 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313571 SCV000482660 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000639418 SCV000760992 benign Congenital muscular hypertrophy-cerebral syndrome 2017-12-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147567 SCV000311450 likely benign not specified criteria provided, single submitter clinical testing

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