Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082179 | SCV000114125 | benign | not specified | 2012-09-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082179 | SCV000151164 | benign | not specified | 2015-11-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081711 | SCV000290701 | benign | Walker-Warburg congenital muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082179 | SCV000314270 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000082179 | SCV000513039 | benign | not specified | 2015-07-24 | 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 | RCV000576800 | SCV000677300 | benign | Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2017-05-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001727566 | SCV000885463 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354283 | SCV002647668 | benign | Cardiovascular phenotype | 2018-12-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002505004 | SCV002805481 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000082179 | SCV004038562 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000082179 | SCV001921930 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727566 | SCV001972080 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001727566 | SCV002037013 | likely benign | not provided | no assertion criteria provided | clinical testing |