Submissions for variant NM_000320.3(QDPR):c.96C>T (p.Ala32=)

gnomAD frequency: 0.00789  dbSNP: rs2518608

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000394706	SCV000339809	benign	not specified	2016-02-29	criteria provided, single submitter	clinical testing
Invitae	RCV000546372	SCV000631817	benign	Dihydropteridine reductase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000546372	SCV001310147	benign	Dihydropteridine reductase deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000546372	SCV000734327	likely benign	Dihydropteridine reductase deficiency		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000394706	SCV001918787	benign	not specified		no assertion criteria provided	clinical testing