Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269050 | SCV001448243 | uncertain significance | Phenylketonuria | 2020-07-25 | reviewed by expert panel | curation | (PAH):c.1066-13T>G is an intronic variant with conflicting in silico evidence in splicing impact. This variant was documented in a patient with moderate PKU in trans with pathogenic variant p.R243Q (PMID 24705691). This variant is absent from population databases. In summary, this variant has insufficient evidence and is classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, and PP4. |
Baylor Genetics | RCV001269050 | SCV004209671 | likely pathogenic | Phenylketonuria | 2023-05-02 | criteria provided, single submitter | clinical testing |