ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) (rs201302282)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000222591 SCV000230517 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222591 SCV000271669 uncertain significance not specified 2015-09-10 criteria provided, single submitter clinical testing The p.Ala1901Thr variant in DMD has not been previously reported in individuals with cardiomyopathy, but has been identified in 14/47910 European chromosomes (i ncluding 6 hemizygotes) by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; rs201302282). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ala1901Thr variant is uncertain.
GeneDx RCV000222591 SCV000532232 likely benign not specified 2018-01-24 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 RCV000459519 SCV000560857 benign Duchenne muscular dystrophy 2017-08-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000222591 SCV000603368 uncertain significance not specified 2017-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617904 SCV000735569 uncertain significance Cardiovascular phenotype 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Blueprint Genetics RCV000157167 SCV000206891 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing

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