ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) (rs398124184)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081179 SCV000113087 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000081179 SCV000523124 likely benign not specified 2017-03-27 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.
Genetic Services Laboratory, University of Chicago RCV000146259 SCV000193513 uncertain significance Muscular dystrophy 2014-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373813 SCV000438176 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283898 SCV000438177 uncertain significance Walker-Warburg Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527303 SCV000638994 benign Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 2017-10-10 criteria provided, single submitter clinical testing

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