ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) (rs139654605)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715324 SCV000846153 likely benign History of neurodevelopmental disorder 2016-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000713378 SCV000843978 benign not provided 2017-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193146 SCV000707505 benign not specified 2017-04-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193146 SCV000248986 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing
Invitae RCV000639417 SCV000760991 benign Congenital muscular hypertrophy-cerebral syndrome 2017-09-13 criteria provided, single submitter clinical testing

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