Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001485302 | SCV001689734 | likely benign | Hereditary insensitivity to pain with anhidrosis | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002562701 | SCV003614093 | likely benign | Inborn genetic diseases | 2022-05-13 | 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. |
Genome- |
RCV001485302 | SCV004048723 | likely benign | Hereditary insensitivity to pain with anhidrosis | 2023-04-11 | criteria provided, single submitter | clinical testing |