Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000148722 | SCV000852160 | uncertain significance | Phenylketonuria | 2018-08-13 | reviewed by expert panel | curation | PAH-specific ACMG/AMP criteria applied: PP4: N167S was observed in 1 case (genotype N167S/-) with benign persistent hyperphenylalaninemia (200-600 uM). (PMID:11385716); BS1: gnomAD MAF: 0.01461. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PP4, BS1). |
Soonchunhyang University Bucheon Hospital, |
RCV000148722 | SCV000267432 | uncertain significance | Phenylketonuria | 2016-03-18 | criteria provided, single submitter | reference population | |
Labcorp Genetics |
RCV000148722 | SCV001006429 | benign | Phenylketonuria | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000148722 | SCV001138802 | benign | Phenylketonuria | 2019-05-28 | criteria provided, single submitter | clinical testing | |
De |
RCV000088951 | SCV000119552 | not provided | not provided | no assertion provided | not provided | ||
CSER _CC_NCGL, |
RCV000148722 | SCV000190454 | likely benign | Phenylketonuria | 2014-06-01 | no assertion criteria provided | research | |
Natera, |
RCV000148722 | SCV001455414 | benign | Phenylketonuria | 2020-01-11 | no assertion criteria provided | clinical testing |