Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001084764 | SCV000660161 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000713734 | SCV000844363 | likely benign | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713734 | SCV001790490 | likely benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32557143) |
Ambry Genetics | RCV002527959 | SCV003703509 | likely benign | Inborn genetic diseases | 2022-01-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV000713734 | SCV004153092 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SYNJ1: BP4, BS2 |
Prevention |
RCV003952906 | SCV004774286 | likely benign | SYNJ1-related disorder | 2020-01-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |