Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001818081 | SCV002067881 | benign | not specified | 2020-04-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001818081 | SCV002737980 | likely benign | not specified | 2022-09-12 | 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. |
Labcorp Genetics |
RCV002542716 | SCV003253094 | benign | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV002542716 | SCV005213449 | likely benign | not provided | criteria provided, single submitter | not provided |