Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669122 | SCV000793836 | likely pathogenic | Cobalamin C disease | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669122 | SCV002240275 | pathogenic | Cobalamin C disease | 2021-09-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553635). This variant has not been reported in the literature in individuals affected with MMACHC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp104Thrfs*19) in the MMACHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMACHC are known to be pathogenic (PMID: 16311595). |
Fulgent Genetics, |
RCV000669122 | SCV002809472 | likely pathogenic | Cobalamin C disease | 2021-12-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000669122 | SCV003832629 | likely pathogenic | Cobalamin C disease | 2022-12-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000669122 | SCV004178149 | likely pathogenic | Cobalamin C disease | 2023-04-11 | criteria provided, single submitter | clinical testing |