Submissions for variant NM_000277.3(PAH):c.969+43G>T

gnomAD frequency: 0.36369  dbSNP: rs1522306

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen PAH Variant Curation Expert Panel	RCV000721183	SCV000852157	benign	Phenylketonuria	2018-08-10	reviewed by expert panel	curation	PAH-specific ACMG/AMP criteria applied: BA1: MAF=0.49022 in ExAC; BP2: Observed in cis with R261Q. (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)	RCV000078540	SCV000110396	benign	not specified	2013-02-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078540	SCV000303449	benign	not specified		criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000721183	SCV001749992	benign	Phenylketonuria	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000089180	SCV001903284	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000089180	SCV005235492	benign	not provided		criteria provided, single submitter	not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	RCV000089180	SCV000119795	not provided	not provided		no assertion provided	not provided