Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000721177 | SCV000852107 | likely pathogenic | Phenylketonuria | 2018-08-10 | reviewed by expert panel | curation | PAH-specific ACMG/AMP criteria applied: PM2: 1 allele in ExAC ; PP3: tools predict damaging ; PP4_Moderate: P281S Identified in at least one patient with classic PKU. BH4 deficiency excluded. (PMID:15589814); PM3_Strong: Detected with c.1315+1G>A & p.Arg243Ter, pathogenic in ClinVar (PMID:26666653; PMID:27121329). In summary this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP3, PP4_Moderate, PM3_Strong). |
Eurofins Ntd Llc |
RCV000078533 | SCV000110389 | uncertain significance | not provided | 2015-09-29 | criteria provided, single submitter | clinical testing | |
De |
RCV000078533 | SCV000119738 | not provided | not provided | no assertion provided | not provided |