ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6260C>A (p.Ser2087Tyr) (rs1299914386)

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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 RCV000784903 SCV000923443 uncertain significance Merosin deficient congenital muscular dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784904 SCV000923444 uncertain significance Laminin alpha 2-related dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784905 SCV000923445 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2019-01-01 criteria provided, single submitter clinical testing

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