ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) (rs1046166)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710159 SCV000613995 likely benign not provided 2018-04-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081177 SCV000113085 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000081177 SCV000196854 benign not specified 2016-07-11 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.
Genetic Services Laboratory, University of Chicago RCV000081177 SCV000193509 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356863 SCV000438144 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398032 SCV000438145 uncertain significance Walker-Warburg Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525496 SCV000638988 benign Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 2018-01-04 criteria provided, single submitter clinical testing

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