ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.113T>A (p.Leu38His)

dbSNP: rs1558116084
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680034 SCV000807473 uncertain significance Congenital muscular dystrophy due to LMNA mutation 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old female with congenital muscular dystrophy, severe wakness, scoliosis, contractures, sleep apnea

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