ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) (rs1800273)

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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 RCV000080734 SCV000112636 benign not specified 2014-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000080734 SCV000168134 benign not specified 2014-03-11 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080734 SCV000268967 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Arg2155Trp in exon 45 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 3.8% (254/6725) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs1800273).
Invitae RCV000233842 SCV000288066 benign Duchenne muscular dystrophy 2017-08-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080734 SCV000309939 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243807 SCV000317993 benign Cardiovascular phenotype 2015-06-29 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
Illumina Clinical Services Laboratory,Illumina RCV000351438 SCV000482234 likely benign Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755513 SCV000603340 benign not provided 2017-07-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576530 SCV000677276 benign Becker muscular dystrophy; Duchenne muscular dystrophy 2017-05-31 criteria provided, single submitter clinical testing

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