ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000078769 SCV000613968 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078769 SCV000110629 benign not specified 2013-04-17 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.
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).
Invitae RCV000559634 SCV000658685 benign Laminin alpha 2-related dystrophy 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078769 SCV000304153 benign not specified criteria provided, single submitter clinical testing

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