ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.1026A>C (p.Ser342=) (rs61732077)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173807 SCV000224959 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173807 SCV000248993 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000173807 SCV000615360 benign not specified 2017-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717145 SCV000847992 benign History of neurodevelopmental disorder 2016-10-11 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000889845 SCV001033553 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601014 SCV000734777 likely benign Syndromic X-linked intellectual disability Snyder type no assertion criteria provided clinical testing

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