ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.612G>A (p.Leu204=) (rs12117552)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000057430 SCV000885653 benign not provided 2018-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253205 SCV000318270 likely benign Cardiovascular phenotype 2013-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000057430 SCV000842668 benign not provided 2017-09-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768713 SCV000900083 benign Cardiomyopathy 2016-05-02 criteria provided, single submitter clinical testing
Color RCV000768713 SCV000910603 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041356 SCV000113218 benign not specified 2012-07-13 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057430 SCV000088544 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000041356 SCV000595597 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379768 SCV000348794 likely benign Congenital muscular dystrophy, LMNA-related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285363 SCV000348795 likely benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344918 SCV000348796 likely benign Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390872 SCV000348797 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291863 SCV000348798 likely benign Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346784 SCV000348799 likely benign Familial partial lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285363 SCV000348800 likely benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311894 SCV000348801 likely benign Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371234 SCV000348802 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403709 SCV000348803 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226227 SCV000348804 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285363 SCV000348805 likely benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226227 SCV000291561 benign Charcot-Marie-Tooth disease, type 2 2018-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041356 SCV000065049 benign not specified 2012-03-19 criteria provided, single submitter clinical testing Leu204Leu in exon 3 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located near a s plice junction, and has been identified in 0.8% (56/7020) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs12117552).
PreventionGenetics RCV000041356 SCV000316412 benign not specified criteria provided, single submitter clinical testing

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