ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) (rs36044314)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078750 SCV000110610 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000078750 SCV000257691 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078750 SCV000304126 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000555236 SCV000658636 benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152471 SCV001313687 likely benign 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 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 RCV000078750 SCV000151644 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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