ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)

dbSNP: rs60652225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015601 SCV000035866 pathogenic Hutchinson-Gilford progeria syndrome, childhood-onset 2003-08-09 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057403 SCV000088516 not provided not provided no assertion provided not provided

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