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

Total submissions: 23

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000041356	SCV000113218	benign	not specified	2012-07-13	criteria provided, single submitter	clinical testing
Invitae	RCV000057430	SCV000291561	benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000041356	SCV000316412	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253205	SCV000318270	likely benign	Cardiovascular phenotype	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
Genetic Services Laboratory, University of Chicago	RCV000041356	SCV000595597	benign	not specified	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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000057430	SCV000885653	benign	not provided	2018-04-12	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
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057430	SCV000088544	not provided	not provided		no assertion provided	not provided