Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312118 | SCV000846186 | benign | Inborn genetic diseases | 2015-06-22 | 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. |
Gene |
RCV001668239 | SCV001883968 | benign | not provided | 2018-07-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001701600 | SCV001933958 | benign | Syndromic X-linked intellectual disability 94 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001668239 | SCV002343304 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117156 | SCV000151320 | 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. |