ClinVar Miner

Submissions for variant NM_000791.4(DHFR):c.-367T>C

gnomAD frequency: 0.00183  dbSNP: rs141080879
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950688 SCV001097017 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010590 SCV001170814 benign Hereditary cancer-predisposing syndrome 2018-10-29 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 RCV000950688 SCV002008653 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002282411 SCV002046778 benign not specified 2021-03-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002282411 SCV002570184 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000950688 SCV005225228 likely benign not provided criteria provided, single submitter not provided

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