Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001199988 | SCV001370823 | benign | Phenylketonuria | 2020-03-27 | reviewed by expert panel | curation | The c.353-22C>T variant in PAH has a MAF of 0.7066 in the gnomAD East Asian population. This intronic variant does not have a predicted impact on splicing. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1, BP7 |
Prevention |
RCV000254369 | SCV000303446 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Pars Genome Lab | RCV001199988 | SCV001750011 | benign | Phenylketonuria | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000088901 | SCV001915541 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001199988 | SCV002029373 | benign | Phenylketonuria | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001199988 | SCV002804932 | benign | Phenylketonuria | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001199988 | SCV003479379 | benign | Phenylketonuria | 2024-05-06 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000088901 | SCV005235507 | benign | not provided | criteria provided, single submitter | not provided | ||
De |
RCV000088901 | SCV000119499 | not provided | not provided | no assertion provided | not provided |