Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178873 | SCV000231042 | uncertain significance | not provided | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000178873 | SCV000561793 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354463 | SCV002652650 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-08 | 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. |