ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.412-10C>T (rs149219651)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081386 SCV000113317 benign not specified 2012-07-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081386 SCV000195017 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355360 SCV000482664 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000531305 SCV000637999 benign Congenital muscular hypertrophy-cerebral syndrome 2017-12-23 criteria provided, single submitter clinical testing

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