ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.732C>T (p.Thr244=)

gnomAD frequency: 0.00082  dbSNP: rs45486194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861927 SCV001002348 benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381911 SCV002668833 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: 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.
Natera, Inc. RCV000861927 SCV002094644 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-06-11 no assertion criteria provided clinical testing

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