ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1338T>C (p.Asp446=) (rs505058)

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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000057270 SCV000604104 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252403 SCV000317786 benign Cardiovascular phenotype 2013-01-22 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
Athena Diagnostics Inc RCV000576389 SCV000677344 benign Charcot-Marie-Tooth disease type 2B1; Limb-girdle muscular dystrophy, type 1B; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000057270 SCV000842662 benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000041315 SCV000051562 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000776001 SCV000910534 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041315 SCV000113211 benign not specified 2013-09-19 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057270 SCV000088383 not provided not provided no assertion provided not provided
GeneDx RCV000041315 SCV000170143 benign not specified 2013-07-08 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.
Genetic Services Laboratory, University of Chicago RCV000041315 SCV000193520 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351015 SCV000348879 benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402362 SCV000348880 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278595 SCV000348881 benign Congenital muscular dystrophy, LMNA-related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304015 SCV000348882 benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392971 SCV000348883 benign Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300868 SCV000348884 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 RCV000357954 SCV000348885 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304015 SCV000348886 benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304015 SCV000348887 benign Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360967 SCV000348888 benign Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268754 SCV000348889 benign Familial partial lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326241 SCV000348890 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041315 SCV000065007 benign not specified 2008-03-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000041315 SCV000316401 benign not specified criteria provided, single submitter clinical testing

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