Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000116876 | SCV000226074 | benign | not specified | 2015-05-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000116876 | SCV000307655 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001517155 | SCV001725595 | benign | Dyskeratosis congenita | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610404 | SCV001839507 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390259 | SCV002696990 | benign | Dyskeratosis congenita; Inborn genetic diseases | 2014-11-24 | 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, |
RCV000116876 | SCV000150961 | 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. |