ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter)

dbSNP: rs1787059737
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264200 SCV001442302 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2019-12-27 criteria provided, single submitter clinical testing

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