ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) (rs121913575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674731 SCV000800122 pathogenic Merosin deficient congenital muscular dystrophy 2018-05-23 criteria provided, single submitter clinical testing
OMIM RCV000015369 SCV000035630 pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2000-10-24 no assertion criteria provided literature only

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