ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7750-1713_7899-2153del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015373 SCV000035634 pathogenic Merosin deficient congenital muscular dystrophy 2008-12-01 no assertion criteria provided literature only
GeneReviews RCV000015373 SCV000054525 pathologic Merosin deficient congenital muscular dystrophy 2012-06-07 no assertion criteria provided curation Converted during submission to Pathogenic.

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