Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000665023 | SCV001146728 | uncertain significance | Phenylketonuria | 2019-09-27 | reviewed by expert panel | curation | The c.442-18G>A variant in PAH has not been reported in the literature to our knowledge. This variant has a MAF of 0.00067 in the gnomAD Latino population. This is too high for PM2, but too low for BS1 per PAH EP guidelines. No splicing impact is predicted in HSF or MaxEnt (BP7). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: BP7. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506444 | SCV000601713 | uncertain significance | not specified | 2017-04-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000665023 | SCV000789076 | likely benign | Phenylketonuria | 2016-12-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000665023 | SCV002443540 | likely benign | Phenylketonuria | 2024-12-17 | criteria provided, single submitter | clinical testing |