Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500101 | SCV000594185 | uncertain significance | not specified | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562051 | SCV001784758 | uncertain significance | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV003159623 | SCV003885090 | uncertain significance | Inborn genetic diseases | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.3235G>A (p.V1079I) alteration is located in exon 19 (coding exon 19) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 3235, causing the valine (V) at amino acid position 1079 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |