ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)

dbSNP: rs61064130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015595 SCV000035860 pathogenic Hutchinson-Gilford syndrome 2003-05-15 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057363 SCV000088476 not provided not provided no assertion provided not provided
GeneReviews RCV000015595 SCV000196619 not provided Hutchinson-Gilford syndrome no assertion provided literature only

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