Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000869279 | SCV001898964 | benign | not provided | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002055342 | SCV002402122 | likely benign | Spastic paraplegia | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336264 | SCV002638631 | likely benign | Inborn genetic diseases | 2019-10-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
ITMI | RCV000121282 | SCV000085453 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |