Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001195766 | SCV001366186 | uncertain significance | Anophthalmia/microphthalmia-esophageal atresia syndrome | 2018-12-03 | 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: PVS1,PM2,PP3. |
Genome |
RCV001249255 | SCV001423196 | not provided | SOX2-related disorder | no assertion provided | phenotyping only | Variant interpretted as Pathogenic and reported on 09-26-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |