Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000993609 | SCV001146715 | uncertain significance | Phenylketonuria | 2019-09-29 | reviewed by expert panel | curation | The c.168+6T>G variant has been identified in at least 1 proband with classical PKU (PMIDs: 8889590) in trans with pathogenic variant c.47_48delCT (ClinVar 102696). This variant is absent from 1000G, ESP, and gnomAD databases. In summary, this variant meets criteria to be classified as unknown significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_supporting, PP4. |
De |
RCV000088850 | SCV000119445 | not provided | not provided | no assertion provided | not provided |