ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2315A>G (p.Gln772Arg)

gnomAD frequency: 0.00004  dbSNP: rs750824195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001352530 SCV001547091 likely benign Methylcobalamin deficiency type cblG 2024-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001762610 SCV001990987 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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