Submissions for variant NM_000791.4(DHFR):c.-384G>C

gnomAD frequency: 0.00004  dbSNP: rs564858245

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000936734	SCV001082506	likely benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001011754	SCV001172112	likely benign	Hereditary cancer-predisposing syndrome	2021-05-26	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.
Sema4, Sema4	RCV001011754	SCV002535959	uncertain significance	Hereditary cancer-predisposing syndrome	2021-10-14	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000936734	SCV004221040	likely benign	not provided	2023-02-06	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV004596378	SCV005089794	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960525	SCV004775885	likely benign	MSH3-related disorder	2023-02-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).