Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078102 | SCV000109940 | benign | not specified | 2015-12-04 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078102 | SCV000150502 | benign | not specified | 2013-09-10 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000078102 | SCV000268829 | benign | not specified | 2014-10-29 | criteria provided, single submitter | clinical testing | p.Ala236Thr in exon 5 of CAPN3: This variant is not expected to have clinical si gnificance because it has been identified in 62% (2737/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs1801449). |
Preventiongenetics, |
RCV000078102 | SCV000301896 | benign | not specified | 2016-02-10 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000346923 | SCV000391004 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 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 Laboratory Services, |
RCV000399161 | SCV000391005 | benign | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000078102 | SCV000518448 | benign | not specified | 2016-01-14 | 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. |
Athena Diagnostics Inc | RCV000710095 | SCV000677227 | benign | not provided | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000346923 | SCV000743939 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000346923 | SCV001139558 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000346923 | SCV001728094 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001526791 | SCV001737404 | benign | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000346923 | SCV001737405 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000078102 | SCV002050844 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000346923 | SCV001454325 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000078102 | SCV001925507 | benign | not specified | no assertion criteria provided | clinical testing |