ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.402T>C (p.Asp134=)

gnomAD frequency: 0.00004  dbSNP: rs774024065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401099 SCV001602916 likely benign Cobalamin C disease 2018-04-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001401099 SCV002795241 likely benign Cobalamin C disease 2022-02-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001401099 SCV004178167 likely benign Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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