ClinVar Miner

Submissions for variant NM_000791.4(DHFR):c.-437GGGGCGCTG[5]

dbSNP: rs60484572
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000958816 SCV001105693 benign not provided 2017-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000958816 SCV002004805 likely benign not provided 2022-04-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV001819019 SCV002069767 benign not specified 2021-11-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256632 SCV002536025 benign Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001819019 SCV002773909 benign not specified 2021-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548266 SCV003712704 benign Inborn genetic diseases 2022-05-05 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001819019 SCV004024694 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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