ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) (rs60310264)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015596 SCV000035861 pathogenic Hutchinson-Gilford progeria syndrome, atypical 2003-05-15 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057406 SCV000088519 not provided not provided no assertion provided not provided
GeneReviews RCV000192009 SCV000196611 pathogenic Hutchinson-Gilford syndrome 2015-01-08 no assertion criteria provided literature only

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