ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.309C>T (p.Ser103=) (rs59349720)

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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 RCV000081180 SCV000113088 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000081180 SCV000196852 benign not specified 2014-06-25 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 RCV000081180 SCV000193514 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279057 SCV000438174 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320123 SCV000438175 likely benign Walker-Warburg Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544713 SCV000638998 benign Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081180 SCV000310642 benign not specified criteria provided, single submitter clinical testing

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