Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000713740 | SCV000290131 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000229211 | SCV000312490 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000713740 | SCV000844369 | benign | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311356 | SCV000846694 | likely benign | Inborn genetic diseases | 2016-02-24 | 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 |
RCV000713740 | SCV001857569 | benign | not provided | 2019-08-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713740 | SCV002544271 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | SZT2: BP4, BP7, BS1, BS2 |
Fulgent Genetics, |
RCV002503915 | SCV002812037 | likely benign | Developmental and epileptic encephalopathy, 18 | 2021-10-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002503915 | SCV004180645 | benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |