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 RCV000711446 SCV000235823 benign not provided 2019-07-08 criteria provided, single submitter clinical testing
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 2020-11-17 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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