Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000712123 | SCV000526423 | likely benign | not provided | 2020-11-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712123 | SCV000842544 | benign | not provided | 2018-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087415 | SCV001002294 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270328 | SCV002555448 | benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270329 | SCV002555449 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418293 | SCV002724725 | likely benign | Inborn genetic diseases | 2017-10-12 | 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. |
Genome Diagnostics Laboratory, |
RCV000712123 | SCV001926709 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000712123 | SCV001967862 | likely benign | not provided | no assertion criteria provided | clinical testing |