Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000590036 | SCV000693912 | uncertain significance | Nephronophthisis 12 | 2017-06-26 | criteria provided, single submitter | research | This missense variant G1238E is absent from gnomAD and is found in trans to a pathogenic variant (P209L) and is predicted to be damaging. (PM2, PM3, PP3) |
Fulgent Genetics, |
RCV002483562 | SCV002803854 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-05-17 | criteria provided, single submitter | clinical testing |