ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) (rs267607547)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192012 SCV000595636 pathogenic Hutchinson-Gilford syndrome 2013-02-08 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057340 SCV000088453 not provided not provided no assertion provided not provided
GeneReviews RCV000192012 SCV000196615 pathogenic Hutchinson-Gilford syndrome 2015-01-08 no assertion criteria provided literature only

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