ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.861T>C (p.Ala287=) (rs538089)

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Total submissions: 24
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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 RCV000041374 SCV000051563 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041374 SCV000065067 benign not specified 2010-07-23 criteria provided, single submitter clinical testing Ala287Ala in exon 5 of the LMNA gene: This silent variant has been reported in d bSNP (rs538089), although no frequency data is provided. It is not expected to h ave clinical significance because it does not alter an amino acid residue, is n ot located near a splice junction and has been detected at high frequency among the individuals tested by our laboratory.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041374 SCV000113220 benign not specified 2013-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000041374 SCV000170142 benign not specified 2013-09-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000041374 SCV000316416 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249986 SCV000317777 benign Cardiovascular phenotype 2013-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000281700 SCV000348830 benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385848 SCV000348831 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281700 SCV000348832 benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332471 SCV000348833 benign Congenital muscular dystrophy, LMNA-related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389150 SCV000348834 benign Familial partial lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278366 SCV000348835 benign Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335802 SCV000348836 benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374142 SCV000348837 benign Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281700 SCV000348838 benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339029 SCV000348839 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 RCV000408212 SCV000348840 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303946 SCV000348841 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000057475 SCV000614031 benign not provided 2017-07-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000057475 SCV000884079 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Color RCV000776003 SCV000910536 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV000057475 SCV001000555 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057475 SCV000088589 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000041374 SCV000193524 likely benign not specified no assertion criteria provided clinical testing

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