Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952218 | SCV001098702 | likely benign | Neurofibromatosis, type 1 | 2019-09-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427381 | SCV002680923 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-02-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230607 | SCV003928899 | likely benign | not specified | 2023-04-14 | criteria provided, single submitter | clinical testing |