ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) (rs60864230)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015577 SCV000035842 pathogenic Familial partial lipodystrophy 2 2005-12-01 no assertion criteria provided literature only
OMIM RCV000015578 SCV000035843 pathogenic Hutchinson-Gilford progeria syndrome, childhood-onset 2005-12-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057399 SCV000088512 not provided not provided no assertion provided not provided
GeneReviews RCV000192237 SCV000239885 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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