Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000941256 | SCV001087139 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002545933 | SCV003552250 | uncertain significance | Inborn genetic diseases | 2022-10-13 | criteria provided, single submitter | clinical testing | The c.1628-4A>G intronic alteration consists of an A to G substitution 4 nucleotides before exon 13 of the SYNJ1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003432939 | SCV004153101 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | SYNJ1: BP4 |