ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1476G>A (p.Pro492=)

gnomAD frequency: 0.00937  dbSNP: rs35653697
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642250 SCV000763910 benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV002275127 SCV002562660 likely benign not provided 2022-02-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002388087 SCV002701108 likely benign Inborn genetic diseases 2022-03-25 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002275127 SCV004563932 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002275127 SCV005286554 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000642250 SCV001455752 benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700433 SCV001923870 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700433 SCV001955910 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700433 SCV001965503 benign not specified no assertion criteria provided clinical testing

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