ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1773C>T (p.Cys591=) (rs397517897)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041333 SCV000065026 likely benign not specified 2008-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000041333 SCV000595637 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000530060 SCV000657807 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000041333 SCV000715234 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV001184223 SCV001350163 likely benign Cardiomyopathy 2018-11-21 criteria provided, single submitter clinical testing

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