ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.125C>T (p.Pro42Leu)

gnomAD frequency: 0.00004  dbSNP: rs763226016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772400 SCV001994142 uncertain significance not provided 2019-02-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV005023229 SCV005652293 uncertain significance Cobalamin C disease 2024-04-25 criteria provided, single submitter clinical testing

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