ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1911C>T (p.Phe637=) (rs117939448)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041337 SCV000065030 likely benign not specified 2012-01-05 criteria provided, single submitter clinical testing Phe637Phe in exon 11 of LMNA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. This variant has been identified in 0.3% (7/23 34) of chromosomes from a broad, though clinically and racially unspecified popu lation (dbSNP rs117939448) and in 3/3738 African American chromosomes in a borad and clinically unspecified cohort (http://evs.gs.washington.edu/EVS). Phe637Ph e in exon 11 of LMNA (rs117939448; 0.3%, 7/2334)
PreventionGenetics,PreventionGenetics RCV000041337 SCV000316408 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041337 SCV000339229 likely benign not specified 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV000473263 SCV000559819 benign Charcot-Marie-Tooth disease, type 2 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619457 SCV000737977 likely benign Cardiovascular phenotype 2017-04-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170983 SCV001333646 benign Cardiomyopathy 2017-11-03 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173400 SCV001336488 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color Health, Inc RCV001170983 SCV001342457 benign Cardiomyopathy 2018-07-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000041337 SCV001476538 benign not specified 2020-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001529866 SCV001858964 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529866 SCV001744067 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000041337 SCV001919568 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529866 SCV001932765 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001529866 SCV001951034 likely benign not provided no assertion criteria provided clinical testing

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