Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001199990 | SCV001370826 | benign | Phenylketonuria | 2020-03-27 | reviewed by expert panel | curation | The c.1316-35C>T variant in PAH has a MAF of 0.02321 in the gnomAD European (Non-Finnish) 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 |
RCV000251588 | SCV000303443 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000088831 | SCV001759575 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000088831 | SCV005235481 | benign | not provided | criteria provided, single submitter | not provided | ||
De |
RCV000088831 | SCV000119423 | not provided | not provided | no assertion provided | not provided |