Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000713508 | SCV000524450 | benign | not provided | 2021-02-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29619247) |
Athena Diagnostics Inc | RCV000713508 | SCV000844129 | likely benign | not provided | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001486073 | SCV001690522 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2022-10-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808812 | SCV002056659 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525371 | SCV003688668 | likely benign | Inborn genetic diseases | 2022-03-14 | 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. |
Ce |
RCV000713508 | SCV004156410 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | SPTAN1: PP2, BS1 |