ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)

dbSNP: rs59931416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081302 SCV000113214 uncertain significance not provided 2013-11-12 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987355 SCV004804707 pathogenic Congenital muscular dystrophy due to LMNA mutation 2024-03-17 criteria provided, single submitter research

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