ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.664C>T (p.His222Tyr) (rs28928901)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015583 SCV000035848 pathogenic Emery-Dreifuss muscular dystrophy 3, autosomal recessive 2000-04-01 no assertion criteria provided literature only
GeneReviews RCV000034133 SCV000058064 pathologic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2013-01-17 no assertion criteria provided curation Converted during submission to Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057440 SCV000088554 not provided not provided no assertion provided not provided

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