ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1968+1G>A (rs113436208)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015606 SCV000035871 pathogenic Lethal tight skin contracture syndrome 2015-08-01 no assertion criteria provided literature only
OMIM RCV000015607 SCV000035872 pathogenic Hutchinson-Gilford syndrome 2015-08-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057377 SCV000088490 not provided not provided no assertion provided not provided
GeneReviews RCV000015607 SCV000196622 pathogenic Hutchinson-Gilford syndrome 2015-01-08 no assertion criteria provided literature only

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