ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) (rs201302282)

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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 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 RCV001719984 SCV000532232 benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Invitae RCV000459519 SCV000560857 benign Duchenne muscular dystrophy 2020-12-05 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 likely benign Cardiovascular phenotype 2019-11-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Genetics and Genomics Program,Sidra Medicine RCV000157167 SCV001434172 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Blueprint Genetics RCV000157167 SCV000206891 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing

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