Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003762800 | SCV000655710 | benign | Myoclonic-atonic epilepsy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315028 | SCV000848675 | likely benign | Inborn genetic diseases | 2017-01-06 | 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. |
Athena Diagnostics Inc | RCV000544573 | SCV001145702 | benign | not provided | 2019-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000544573 | SCV001837590 | benign | not provided | 2019-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000544573 | SCV004146946 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SLC6A1: BP4, BP7, BS1 |