Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198590 | SCV001369580 | uncertain significance | CODAS syndrome | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PP3. |
Invitae | RCV002560250 | SCV003499330 | likely benign | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002559267 | SCV003744553 | uncertain significance | Inborn genetic diseases | 2021-01-29 | criteria provided, single submitter | clinical testing | The c.1939G>A (p.E647K) alteration is located in exon 13 (coding exon 13) of the LONP1 gene. This alteration results from a G to A substitution at nucleotide position 1939, causing the glutamic acid (E) at amino acid position 647 to be replaced by a lysine (K). The in silico prediction for the p.E647K alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |