ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1017G>A (p.Ala339=) (rs17847242)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172001 SCV000050978 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000244350 SCV000319141 likely benign Cardiovascular phenotype 2013-11-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000276961 SCV000341229 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000276961 SCV000513495 likely benign not specified 2017-08-25 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.
Invitae RCV000172001 SCV000559831 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000276961 SCV000595593 likely benign not specified 2016-06-16 criteria provided, single submitter clinical testing
Color RCV000771177 SCV000903109 benign Cardiomyopathy 2018-07-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172001 SCV001147459 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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