ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1761G>A (p.Leu587=) (rs80356813)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249377 SCV000318704 likely benign Cardiovascular phenotype 2015-10-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
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 RCV000030149 SCV000910777 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041331 SCV000114726 likely benign not specified 2015-10-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000041331 SCV000595613 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030149 SCV000052804 benign Cardiomyopathy 2015-05-20 no assertion criteria provided clinical testing
Invitae RCV000228746 SCV000291553 benign Charcot-Marie-Tooth disease, type 2 2018-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).
PreventionGenetics RCV000041331 SCV000316407 likely benign not specified criteria provided, single submitter clinical testing

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