ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) (rs140483001)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710156 SCV000110656 uncertain significance not provided 2013-07-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000253133 SCV000304179 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404201 SCV000460074 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-01-12 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.
Athena Diagnostics Inc RCV000710156 SCV000613981 likely benign not provided 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV001084543 SCV000658759 likely benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing

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