Submissions for variant NM_000277.3(PAH):c.441+47C>T

gnomAD frequency: 0.37849  dbSNP: rs1718301

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen PAH Variant Curation Expert Panel	RCV001533426	SCV002818501	benign	Phenylketonuria	2022-12-09	reviewed by expert panel	curation	This c.441+47C>T variant in PAH is widely found in population databases at a frequency of 0.372401 in ExAC. This intronic variant is not predicted to have a splice-altering consequence. In summary, this variant meets criteria to be classified as a benign for PAH. PAH-specific ACMG/AMP criteria applied: BP7, BA1.
PreventionGenetics, part of Exact Sciences	RCV000244724	SCV000303447	benign	not specified		criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533426	SCV001750010	benign	Phenylketonuria	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000088921	SCV001828253	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001533426	SCV002801656	likely benign	Phenylketonuria	2021-10-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001533426	SCV003482455	benign	Phenylketonuria	2024-09-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000088921	SCV005235505	benign	not provided		criteria provided, single submitter	not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	RCV000088921	SCV000119519	not provided	not provided		no assertion provided	not provided