ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) (rs57629361)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000057328 SCV000233099 pathogenic not provided 2017-01-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000201062 SCV000255783 likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2015-06-26 criteria provided, single submitter clinical testing
Mendelics RCV000986432 SCV001135432 likely pathogenic Hutchinson-Gilford syndrome 2019-05-28 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057328 SCV000088441 not provided not provided no assertion provided not provided

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