Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269052 | SCV001448245 | uncertain significance | Phenylketonuria | 2020-07-25 | reviewed by expert panel | curation | (PAH):c.1065+7C>A is an intronic variant that is predicted to be have no effect on splicing by multiple lines of computational evidence. This variant was identified in a patient with mild HPA. Patient genotype was not specified homozygous or compound heterozygous (PMID 10947211). This variant is absent in population databases. In summary, this variant has insufficient evidence and is classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, BP4, and PP4. |
De |
RCV000088737 | SCV000119319 | not provided | not provided | no assertion provided | not provided |