ClinVar Miner

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

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Total submissions: 13
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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 This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000276961 SCV000341229 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000172001 SCV000513495 likely benign not provided 2021-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362, 19638735, 28679633)
Invitae RCV001086138 SCV000559831 benign Charcot-Marie-Tooth disease, type 2 2020-11-07 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 Health, Inc 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000771177 SCV001333641 benign Cardiomyopathy 2018-02-07 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172634 SCV001335697 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000276961 SCV001922601 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000172001 SCV001930758 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000172001 SCV001958579 likely benign not provided no assertion criteria provided clinical testing

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