Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002259598 | SCV002540162 | uncertain significance | Phenylketonuria | 2020-07-09 | reviewed by expert panel | curation | The c.970-6T>G variant in PAH is absent from population databases (PM2). It has been observed in at least one PKU patient (PMID: 7766957) compound heterozygous with pathogenic variant R413P (ClinVar592; PM3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3. |
De |
RCV000089186 | SCV000119801 | not provided | not provided | no assertion provided | not provided |