ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.574C>T (p.Leu192=)

gnomAD frequency: 0.00002  dbSNP: rs762919217
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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 RCV001441700 SCV001644634 likely benign Cobalamin C disease 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001441700 SCV002811423 likely benign Cobalamin C disease 2021-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001441700 SCV004178201 likely benign Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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