Submissions for variant NM_000791.4(DHFR):c.-400A>G

gnomAD frequency: 0.02618  dbSNP: rs2405875

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958815	SCV001105692	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001012494	SCV001172952	benign	Hereditary cancer-predisposing syndrome	2018-09-19	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000958815	SCV002006319	likely benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001804118	SCV002050099	benign	Constitutional megaloblastic anemia with severe neurologic disease	2023-10-13	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001012494	SCV002535972	benign	Hereditary cancer-predisposing syndrome	2021-03-03	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002282412	SCV002570189	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000958815	SCV005225240	likely benign	not provided		criteria provided, single submitter	not provided