ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)

dbSNP: rs200796753
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725292 SCV000335719 uncertain significance not provided 2015-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000725292 SCV000513437 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085018 SCV001095376 likely benign LAMA2-related muscular dystrophy 2024-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725292 SCV001154885 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001155234 SCV001316651 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.
Revvity Omics, Revvity RCV000725292 SCV003808187 uncertain significance not provided 2021-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000725292 SCV004223941 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing BP4

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