ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.51C>T (p.Ser17=) (rs11549668)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041354 SCV000065047 benign not specified 2012-11-26 criteria provided, single submitter clinical testing Ser17Ser in exon 1 of LMNA: This variant is not expected to have clinical signif icance because it has been identified in 1.3% (108/8542) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs11549668).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041354 SCV000113217 benign not specified 2013-05-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000041354 SCV000193523 benign not specified 2013-11-04 criteria provided, single submitter clinical testing
Invitae RCV000057414 SCV000259730 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041354 SCV000316411 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246550 SCV000318011 benign Cardiovascular phenotype 2012-12-14 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 RCV000355480 SCV000348745 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265426 SCV000348746 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320485 SCV000348747 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 RCV000290770 SCV000348748 likely benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285289 SCV000348749 likely benign Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325847 SCV000348750 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385116 SCV000348751 likely benign Familial partial lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290770 SCV000348752 likely benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350387 SCV000348753 likely benign Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290770 SCV000348754 likely benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204379 SCV000348755 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351657 SCV000348756 likely benign Congenital muscular dystrophy, LMNA-related 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000057414 SCV000842666 benign not provided 2017-08-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768708 SCV000900078 benign Cardiomyopathy 2015-10-27 criteria provided, single submitter clinical testing
Color RCV000768708 SCV000902633 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030151 SCV000052806 benign Primary dilated cardiomyopathy 2011-08-18 no assertion criteria provided clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057414 SCV000088528 not provided not provided no assertion provided not provided

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