ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)

dbSNP: rs1553262007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622678 SCV000740848 pathogenic Inborn genetic diseases 2015-04-09 criteria provided, single submitter clinical testing
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre RCV001376156 SCV001548554 likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2021-03-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133407 SCV003816984 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing

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