ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2623-11C>G (rs1028360)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224439 SCV000280954 benign not provided 2015-08-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080516 SCV000112418 benign not specified 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000080516 SCV000168172 benign not specified 2014-01-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000317174 SCV000482268 likely benign Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080516 SCV000268952 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.2623-11C>G in intron 20 of DMD: This variant is not expected to have clinical significance because it has been identified in 8.0% (308/3833) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs1028360).
PreventionGenetics RCV000080516 SCV000309927 benign not specified criteria provided, single submitter clinical testing

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