ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) (rs118083923)

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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 RCV000078749 SCV000110609 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000078749 SCV000196841 benign not specified 2018-02-16 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.
PreventionGenetics,PreventionGenetics RCV000078749 SCV000304123 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428463 SCV000510951 benign not provided 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV001081152 SCV000658632 likely benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000428463 SCV000842611 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157937 SCV001319543 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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