ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) (rs74550830)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710158 SCV000613994 benign not provided 2017-11-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153443 SCV000202944 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000153443 SCV000513463 likely benign not specified 2017-06-30 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 RCV000153443 SCV000595558 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328489 SCV000438152 uncertain significance Walker-Warburg Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383095 SCV000438153 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543148 SCV000638981 benign Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 2018-01-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000153443 SCV000310636 likely benign not specified criteria provided, single submitter clinical testing

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