ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1761G>A (p.Leu587=)

gnomAD frequency: 0.00210  dbSNP: rs80356813
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041331 SCV000065024 benign not specified 2015-09-29 criteria provided, single submitter clinical testing p.Leu587Leu in exon 11 of LMNA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.7% (36/5272) of Finnish chromosomes and 0.3% (187/59480) of European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs80356813).
Eurofins Ntd Llc (ga) RCV000041331 SCV000114726 likely benign not specified 2015-10-19 criteria provided, single submitter clinical testing
Invitae RCV001085192 SCV000291553 benign Charcot-Marie-Tooth disease type 2 2024-02-01 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000041331 SCV000316407 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249377 SCV000318704 likely benign Cardiovascular phenotype 2015-10-02 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.
Genetic Services Laboratory, University of Chicago RCV000041331 SCV000595613 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710161 SCV000614026 benign not provided 2017-10-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000030149 SCV000901154 benign Cardiomyopathy 2016-02-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000030149 SCV000910777 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172632 SCV001335695 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710161 SCV001746873 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing LMNA: BP4, BS2
GeneDx RCV000710161 SCV001941598 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030149 SCV000052804 benign Cardiomyopathy 2015-05-20 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041331 SCV001744437 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041331 SCV001917059 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000041331 SCV001930647 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041331 SCV001959722 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710161 SCV001975391 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000041331 SCV002035596 benign not specified no assertion criteria provided clinical testing

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