ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.411G>A (p.Ala137=) (rs149347601)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244548 SCV000304151 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279526 SCV000459989 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000712186 SCV000532327 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12552556, 30055037)
Invitae RCV001080784 SCV000658681 benign Laminin alpha 2-related dystrophy 2020-12-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244548 SCV000703939 likely benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712186 SCV000842617 benign not provided 2017-11-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000712186 SCV001154867 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing

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