Submissions for variant NM_000791.4(DHFR):c.-259C>T

gnomAD frequency: 0.00658  dbSNP: rs6151597

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958800	SCV001105675	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014749	SCV001175498	likely benign	Hereditary cancer-predisposing syndrome	2018-09-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001287831	SCV001474567	benign	Constitutional megaloblastic anemia with severe neurologic disease	2023-10-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000958800	SCV002006391	likely benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001579957	SCV002046937	benign	not specified	2021-04-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001579957	SCV002570217	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000958800	SCV005225217	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579957	SCV001809169	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579957	SCV001923582	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000958800	SCV001953934	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000958800	SCV002035923	likely benign	not provided		no assertion criteria provided	clinical testing