ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) (rs143184877)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000223431 SCV000112499 likely benign not specified 2015-04-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223431 SCV000270128 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Arg1324Cys in exon 29 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (64/8493) of African chromosom es by the Exome Aggregation Consortium, including 8 hemizygous individuals (ExAC , http://exac.broadinstitute.org; rs143184877).
Ambry Genetics RCV000250502 SCV000320674 benign Cardiovascular phenotype 2018-06-29 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000223431 SCV000526588 benign not specified 2017-01-06 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 RCV000990674 SCV000560868 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000223431 SCV000613119 benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853041 SCV000995798 likely benign Cardiomyopathy 2018-05-23 criteria provided, single submitter clinical testing
Mendelics RCV000990674 SCV001141696 likely benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000223431 SCV001433475 likely benign not specified 2020-01-21 criteria provided, single submitter clinical testing

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