ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.801G>A (p.Arg267=)

dbSNP: rs751017212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001452793 SCV001656466 likely benign Cobalamin C disease 2023-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002070279 SCV002496883 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing MMACHC: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV001452793 SCV002812625 likely benign Cobalamin C disease 2022-03-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001452793 SCV004178236 likely benign Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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