Total submissions: 24
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041327 | SCV000065020 | benign | not specified | 2013-05-22 | criteria provided, single submitter | clinical testing | His566His in exon 10 of LMNA: This variant is not expected to have clinical sign ificance because it has been identified in 25% (2046/8084) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs4641). |
Genomic Research Center, |
RCV000225004 | SCV000119913 | benign | Mandibuloacral dysplasia with type A lipodystrophy | 2016-04-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000041327 | SCV000316406 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000252567 | SCV000317408 | benign | Cardiovascular phenotype | 2019-02-07 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene |
Illumina Clinical Services Laboratory, |
RCV000339153 | SCV000348939 | benign | Lethal tight skin contracture syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000375103 | SCV000348940 | benign | Dilated cardiomyopathy 1A | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000280696 | SCV000348941 | benign | Familial partial lipodystrophy 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000335127 | SCV000348942 | benign | Hutchinson-Gilford syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000398387 | SCV000348943 | benign | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000313972 | SCV000348944 | benign | Congenital muscular dystrophy, LMNA-related | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000350197 | SCV000348945 | benign | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001093768 | SCV000348946 | benign | Charcot-Marie-Tooth disease type 2B1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000225004 | SCV000348947 | benign | Mandibuloacral dysplasia with type A lipodystrophy | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000307278 | SCV000348950 | benign | Emery-Dreifuss muscular dystrophy | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
ARUP Laboratories, |
RCV000041327 | SCV000604105 | benign | not specified | 2018-07-06 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000041327 | SCV000700400 | benign | not specified | 2013-07-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000041327 | SCV000842664 | benign | not specified | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Color | RCV000775990 | SCV000910516 | benign | Cardiomyopathy | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000393593 | SCV001000220 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001098384 | SCV001254746 | benign | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Molecular Genetics Laboratory, |
RCV001173414 | SCV001336502 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000041327 | SCV001433069 | benign | not specified | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Epithelial Biology; Institute of Medical Biology, |
RCV000057348 | SCV000088461 | not provided | not provided | no assertion provided | not provided | ||
Genetic Services Laboratory, |
RCV000041327 | SCV000193521 | likely benign | not specified | no assertion criteria provided | clinical testing |