Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000712137 | SCV000653815 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712137 | SCV000842560 | benign | not provided | 2017-09-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000117390 | SCV000846958 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV000712137 | SCV001848179 | benign | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117390 | SCV000151574 | 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. |