Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086481 | SCV000290703 | likely benign | Walker-Warburg congenital muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117039 | SCV000314272 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000117039 | SCV000337230 | benign | not specified | 2015-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711666 | SCV000519103 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27142102) |
Athena Diagnostics Inc | RCV000117039 | SCV000842053 | likely benign | not specified | 2021-05-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000711666 | SCV000885460 | likely benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001836732 | SCV002097986 | uncertain significance | Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2020-06-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426662 | SCV002680934 | benign | Cardiovascular phenotype | 2019-03-26 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Genetic Services Laboratory, |
RCV000117039 | SCV000151165 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Clinical Genetics, |
RCV000117039 | SCV001919919 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117039 | SCV001967758 | benign | not specified | no assertion criteria provided | clinical testing |