ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1028G>A (p.Arg343His) (rs61733589)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183379 SCV000235823 likely benign not specified 2017-01-05 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 RCV000183379 SCV000335907 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing
Invitae RCV001082016 SCV000625827 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621589 SCV000737102 benign Cardiovascular phenotype 2017-12-06 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000711446 SCV000841813 benign not provided 2018-02-06 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000711446 SCV000987369 likely benign not provided criteria provided, single submitter clinical testing

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