Submissions for variant NM_000277.3(PAH):c.353-22C>T

gnomAD frequency: 0.23047  dbSNP: rs2037639

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen PAH Variant Curation Expert Panel	RCV001199988	SCV001370823	benign	Phenylketonuria	2020-03-27	reviewed by expert panel	curation	The c.353-22C>T variant in PAH has a MAF of 0.7066 in the gnomAD East Asian population. This intronic variant does not have a predicted impact on splicing. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1, BP7
PreventionGenetics, part of Exact Sciences	RCV000254369	SCV000303446	benign	not specified		criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001199988	SCV001750011	benign	Phenylketonuria	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000088901	SCV001915541	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001199988	SCV002029373	benign	Phenylketonuria	2021-09-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001199988	SCV002804932	benign	Phenylketonuria	2022-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001199988	SCV003479379	benign	Phenylketonuria	2024-05-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000088901	SCV005235507	benign	not provided		criteria provided, single submitter	not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	RCV000088901	SCV000119499	not provided	not provided		no assertion provided	not provided