ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2349C>T (p.Asp783=)

gnomAD frequency: 0.00261  dbSNP: rs150734119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610119 SCV000714464 likely benign not specified 2017-08-14 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.
Invitae RCV000955895 SCV001102631 benign Methylcobalamin deficiency type cblG 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420055 SCV004126190 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing MTR: BP4, BP7

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