ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.108G>A (p.Gly36=)

gnomAD frequency: 0.00001  dbSNP: rs1057523951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439446 SCV000534015 likely benign not specified 2016-11-22 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 RCV001392814 SCV001594463 likely benign Methylcobalamin deficiency type cblG 2024-11-05 criteria provided, single submitter clinical testing

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