ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)

gnomAD frequency: 0.09135  dbSNP: rs2306942
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000078762 SCV000110622 benign not specified 2016-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000078762 SCV000151651 benign not specified 2013-09-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078762 SCV000304145 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000327660 SCV000460027 benign Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000078762 SCV000519477 benign not specified 2016-01-19 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.
Invitae RCV001519183 SCV001728008 benign LAMA2-related muscular dystrophy 2021-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078762 SCV002050888 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614705 SCV000734467 benign Merosin deficient congenital muscular dystrophy no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001698960 SCV001922901 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000078762 SCV001931007 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000078762 SCV001956532 benign not specified no assertion criteria provided clinical testing

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