ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) (rs118147866)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224933 SCV000281432 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153434 SCV000202935 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000153434 SCV000518336 benign not specified 2016-11-07 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 RCV000315412 SCV000460015 uncertain significance Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000526616 SCV000658654 benign Laminin alpha 2-related dystrophy 2017-11-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000153434 SCV000304132 likely benign not specified criteria provided, single submitter clinical testing

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