ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.904-4C>G

gnomAD frequency: 0.00018  dbSNP: rs370809675
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001274258 SCV001646516 likely benign Methylcobalamin deficiency type cblE 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540784 SCV003554713 likely benign Inborn genetic diseases 2022-01-31 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.
Natera, Inc. RCV001274258 SCV001458146 likely benign Methylcobalamin deficiency type cblE 2020-09-16 no assertion criteria provided clinical testing

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