ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.400-9C>T (rs782061626)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608494 SCV000734764 likely benign Emery-Dreifuss muscular dystrophy 1, X-linked no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726976 SCV000704602 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000219256 SCV000728371 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219256 SCV000270184 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing c.400-9C>T in intron 5 of EMD: This variant is not expected to have clinical sig nificance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. In addition, i t has been identified in 10/47376 European chromosomes including 3 hemizygous ma les by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).

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