ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5443G>C (p.Glu1815Gln) (rs1554287445)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662050 SCV000784386 uncertain significance Laminin alpha 2-related dystrophy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662051 SCV000784387 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662052 SCV000784388 uncertain significance Merosin deficient congenital muscular dystrophy 2018-03-05 criteria provided, single submitter clinical testing

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