ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.144C>T (p.Leu48=) (rs200537612)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035104 SCV000058744 benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Leu48Leu in exon 2 of EMD: This variant is not expected to have clinical sign ificance because it has been identified in 1.2% (76/6464) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs200537612).
GeneDx RCV000035104 SCV000168326 benign not specified 2013-04-30 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035104 SCV000227021 benign not specified 2014-09-03 criteria provided, single submitter clinical testing
Invitae RCV000461030 SCV000560794 benign Emery-Dreifuss muscular dystrophy 1, X-linked 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617921 SCV000736502 likely benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770586 SCV000902035 uncertain significance Cardiomyopathy 2015-09-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000035104 SCV001362336 likely benign not specified 2019-06-24 criteria provided, single submitter clinical testing

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