ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) (rs754765424)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247130 SCV000319654 uncertain significance Cardiovascular phenotype 2015-05-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000369939 SCV000339253 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000369939 SCV000520358 likely benign not specified 2018-01-08 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 RCV000468573 SCV000560861 benign Duchenne muscular dystrophy 2017-11-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000369939 SCV000711981 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing p.Gln1829Glu in exon 39 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (53/6508) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs754765424).
Liping Wei Laboratory,Peking University RCV000754679 SCV000804771 likely pathogenic Autism spectrum disorder 2018-08-01 no assertion criteria provided research

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