Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313892 | SCV000847433 | benign | Inborn genetic diseases | 2016-07-29 | 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. |
Invitae | RCV000897989 | SCV001042171 | benign | not provided | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000897989 | SCV001942091 | benign | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117250 | SCV000151424 | 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. |