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

gnomAD frequency: 0.02618  dbSNP: rs2405875

Total submissions: 8

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	RCV000958815	SCV002050099	benign	not provided	2024-09-13	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	2025-03-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000958815	SCV005225240	likely benign	not provided		criteria provided, single submitter	not provided
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005392586	SCV006057932	benign	Endometrial carcinoma; Familial adenomatous polyposis 4	2021-07-06	criteria provided, single submitter	clinical testing