Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000954893 | SCV001101560 | benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000954893 | SCV004154459 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | ATRIP: BP4, BP7 |
Breakthrough Genomics, |
RCV000954893 | SCV005304165 | benign | not provided | criteria provided, single submitter | not provided | ||
Ambry Genetics | RCV004877687 | SCV005521763 | likely benign | not specified | 2024-08-21 | 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. |