Submissions for variant NM_000277.3(PAH):c.168+19T>C

gnomAD frequency: 0.21168  dbSNP: rs17842947

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen PAH Variant Curation Expert Panel	RCV000604437	SCV000852103	benign	Phenylketonuria	2018-08-10	reviewed by expert panel	curation	PAH-specific ACMG/AMP criteria applied: BA1: MAF=0.44942 in ExAC; BP2: Observed in cis (in the homozygous state) with IVS2+5G>C (P) (PMID:24048906). In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BA1, BP2).
Eurofins Ntd Llc (ga)	RCV000078514	SCV000110370	benign	not specified	2017-05-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078514	SCV000303444	benign	not specified		criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000604437	SCV000744100	benign	Phenylketonuria	2014-10-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000604437	SCV001720789	benign	Phenylketonuria	2025-02-03	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000604437	SCV001750012	benign	Phenylketonuria	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000088845	SCV001910432	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23690520, 27884173, 32668217)
Fulgent Genetics, Fulgent Genetics	RCV000604437	SCV002808452	benign	Phenylketonuria	2021-07-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000088845	SCV005235508	benign	not provided		criteria provided, single submitter	not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	RCV000088845	SCV000119440	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604437	SCV000733126	benign	Phenylketonuria		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078514	SCV001959552	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000604437	SCV002088674	benign	Phenylketonuria	2019-10-30	no assertion criteria provided	clinical testing