ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.396C>T (p.His132=) (rs145985318)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621249 SCV000736790 benign Cardiovascular phenotype 2017-03-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000035106 SCV000613253 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770589 SCV000902038 likely benign Cardiomyopathy 2017-04-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035106 SCV000342536 benign not specified 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000035106 SCV000512930 benign not specified 2015-07-02 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.
Invitae RCV000474105 SCV000560793 benign Emery-Dreifuss muscular dystrophy 1, X-linked 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035106 SCV000058746 likely benign not specified 2009-05-05 criteria provided, single submitter clinical testing

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