ClinVar Miner

Submissions for variant NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) (rs56771886)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015581 SCV000035846 pathogenic Dilated cardiomyopathy 1A 2000-02-08 no assertion criteria provided literature only
GeneReviews RCV000015581 SCV000087059 pathologic Dilated cardiomyopathy 1A 2013-09-19 no assertion criteria provided curation Converted during submission to Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057492 SCV000088606 not provided not provided no assertion provided not provided
OMIM RCV000681609 SCV000809048 pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2000-02-08 no assertion criteria provided literature only

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