Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312043 | SCV000846019 | benign | Inborn genetic diseases | 2016-03-11 | 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. |
Genome- |
RCV001554751 | SCV001776054 | benign | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001647128 | SCV001855597 | benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116510 | SCV000150458 | 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. |