ClinVar Miner

Submissions for variant NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) (rs142524280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147576 SCV000195025 uncertain significance Cornelia de Lange syndrome 3 2013-10-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400018 SCV000360305 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718247 SCV000849109 likely benign History of neurodevelopmental disorder 2016-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification

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