ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.1479+4A>C (rs377270943)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147552 SCV000194999 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2014-05-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000356126 SCV000335031 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV000147552 SCV000760993 benign Congenital muscular hypertrophy-cerebral syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720083 SCV000850959 benign History of neurodevelopmental disorder 2017-06-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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