ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1821G>A (p.Val607=) (rs59886214)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015611 SCV000035876 pathogenic Hutchinson-Gilford syndrome 2007-09-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057362 SCV000088475 not provided not provided no assertion provided not provided
GeneReviews RCV000015611 SCV000196618 pathogenic Hutchinson-Gilford syndrome 2015-01-08 no assertion criteria provided literature only

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