ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.3405+18C>T

gnomAD frequency: 0.00016  dbSNP: rs374485228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426174 SCV000530381 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522424 SCV003494728 likely benign Methylcobalamin deficiency type cblG 2025-01-06 criteria provided, single submitter clinical testing

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