Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001114784 | SCV001762337 | uncertain significance | Phenylketonuria | 2020-03-26 | reviewed by expert panel | curation | The c.411C>T (p.Ser137Ser) variant is absent from population databases (PM2). Human splice finder does not predict impact on a consensus splice site or creation of a new one, and there was no result in MaxEntScan (BP7). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2. |
Illumina Laboratory Services, |
RCV001114784 | SCV001272690 | uncertain significance | Phenylketonuria | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
De |
RCV000088913 | SCV000119511 | not provided | not provided | no assertion provided | not provided |