ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.789G>A (p.Leu263=) (rs148557956)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617711 SCV000737206 likely benign Cardiovascular phenotype 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723485 SCV000331149 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000041367 SCV000234657 benign not specified 2014-09-23 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 RCV000466496 SCV000559818 likely benign Charcot-Marie-Tooth disease, type 2 2017-09-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041367 SCV000065060 likely benign not specified 2009-10-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000041367 SCV000316413 likely benign not specified criteria provided, single submitter clinical testing

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