ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) (rs267607540)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015588 SCV000035853 pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2000-05-22 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057433 SCV000088546 not provided not provided no assertion provided not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057433 SCV000088547 not provided not provided no assertion provided not provided

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