ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) (rs141392048)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000217993 SCV000112757 likely benign not specified 2014-10-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217993 SCV000270135 likely benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Phe3228Leu in exon 67 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (49/8265) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs141392048).
Ambry Genetics RCV000250763 SCV000320230 benign Cardiovascular phenotype 2017-09-15 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
Invitae RCV000990576 SCV000560820 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000217993 SCV000721717 benign not specified 2017-07-21 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853036 SCV000995793 benign Cardiomyopathy 2019-04-17 criteria provided, single submitter clinical testing
Mendelics RCV000990576 SCV001141590 benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148462 SCV000190161 likely benign Primary dilated cardiomyopathy 2014-06-01 no assertion criteria provided research

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