ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1698+14G>A (rs200917748)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182349 SCV000234661 benign not specified 2014-07-11 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664076 SCV000787528 likely benign Monogenic diabetes 2017-05-19 criteria provided, single submitter research ACMG Criteria:PP3 (4 predictors), BP4 (6 predictors), BP6 (GeneDx)
Color RCV000778037 SCV000914150 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852591 SCV000995293 benign Long QT syndrome 2018-05-26 criteria provided, single submitter clinical testing

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