Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552019 | SCV000660136 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997819 | SCV001153541 | likely benign | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000997819 | SCV001764853 | uncertain significance | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Ambry Genetics | RCV002526762 | SCV003553086 | uncertain significance | Inborn genetic diseases | 2021-07-13 | criteria provided, single submitter | clinical testing | The c.2991+5G>A intronic alteration consists of a G to A substitution nucleotides after coding exon 22 in the SYNJ1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |