ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7452-1G>A

dbSNP: rs1554304931
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Total submissions: 1
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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 RCV000500923 SCV000590915 pathogenic Merosin deficient congenital muscular dystrophy 2017-06-07 criteria provided, single submitter clinical testing

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