ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1299C>T (p.His433=) (rs61217436)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057264 SCV000088377 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000504112 SCV000595630 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000233394 SCV000291549 likely benign Charcot-Marie-Tooth disease, type 2 2016-02-08 criteria provided, single submitter clinical testing

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