ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.8548-10T>C (rs113644365)

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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 RCV000078804 SCV000110664 benign not specified 2012-11-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078804 SCV000304192 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078804 SCV000523546 benign not specified 2016-03-04 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 RCV001082462 SCV000658785 benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712197 SCV000842631 benign not provided 2017-12-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155136 SCV001316545 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory,University of Chicago RCV000078804 SCV000151670 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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