ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.4437-5T>A (rs41285288)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078769 SCV000110629 benign not specified 2013-04-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078769 SCV000304153 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078769 SCV000516591 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514874 SCV000610306 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000078769 SCV000613968 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Invitae RCV001082122 SCV000658685 benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000078769 SCV000864292 benign not specified 2017-09-06 criteria provided, single submitter clinical testing BS1, BS2, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Illumina Clinical Services Laboratory,Illumina RCV001152674 SCV001313899 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.

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