Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000904113 | SCV001048616 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258033 | SCV002531597 | likely benign | Xeroderma pigmentosum | 2020-08-04 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002434196 | SCV002751388 | likely benign | Inborn genetic diseases | 2022-02-28 | 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. |
Ce |
RCV000904113 | SCV004139753 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | ERCC2: BP4, BP7 |