Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002283977 | SCV002573263 | likely pathogenic | Fanconi anemia complementation group D2 | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense) is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Baylor Genetics | RCV002283977 | SCV004196710 | likely pathogenic | Fanconi anemia complementation group D2 | 2023-10-24 | criteria provided, single submitter | clinical testing |