Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559841 | SCV000653826 | likely benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002461326 | SCV000850427 | likely benign | Inborn genetic diseases | 2019-09-18 | 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. |
Gene |
RCV000559841 | SCV001811649 | likely benign | not provided | 2020-10-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000559841 | SCV004165845 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | NEXMIF: BP4, BS2 |