ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3]) (rs398123779)

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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 RCV000244470 SCV000331930 benign not specified 2015-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000244470 SCV000568090 benign not specified 2017-10-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000352457 SCV000431789 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388477 SCV000431790 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541014 SCV000649652 benign Dysferlinopathy 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000244470 SCV000711383 benign not specified 2014-12-19 criteria provided, single submitter clinical testing p.Ala1082_Glu1083dup in exon 30 of DYSF: This variant is a duplication of 2 amin o acids at position 1082 and is not predicted to alter the protein reading-frame . This variant is not expected to have clinical significance because it has been identified in 5.6% (453/8150) of European American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/).
PreventionGenetics RCV000244470 SCV000309667 benign not specified criteria provided, single submitter clinical testing

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