Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674067 | SCV000799340 | likely pathogenic | Cobalamin C disease | 2018-04-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674067 | SCV001232501 | pathogenic | Cobalamin C disease | 2023-09-12 | 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: 557871). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria and homocystinuria (PMID: 19767224). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu96Argfs*9) 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, |
RCV000674067 | SCV002810486 | pathogenic | Cobalamin C disease | 2021-08-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000674067 | SCV004178146 | likely pathogenic | Cobalamin C disease | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000674067 | SCV004193197 | pathogenic | Cobalamin C disease | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273217 | SCV001456009 | pathogenic | Methylmalonic acidemia with homocystinuria cblC | 2020-09-16 | no assertion criteria provided | clinical testing |