Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000008981 | SCV000767982 | pathogenic | Axenfeld-Rieger syndrome type 3 | 2021-08-12 | criteria provided, single submitter | clinical testing | |
3billion | RCV000008981 | SCV002058717 | pathogenic | Axenfeld-Rieger syndrome type 3 | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10% (PVS1_S). The variant was co-segregated with Axenfeld-Rieger syndrome, type 3 in multiple affected family members with additional meioses meeting moderate evidence levels (PMID: 18498376, PP1_M). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000008461, PMID:18498376). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000008981 | SCV000029195 | pathogenic | Axenfeld-Rieger syndrome type 3 | 2008-11-01 | no assertion criteria provided | literature only |