Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418048 | SCV000534797 | uncertain significance | not provided | 2016-12-22 | criteria provided, single submitter | clinical testing | The c.1086 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1086 G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is not conserved. In-silico splice prediction models are not informative as to whether or not the c.1086 G>A variant affects normal gene splicing, and in the absence of RNA/functional studies, the effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001835804 | SCV003264082 | likely benign | Methylcobalamin deficiency type cblE | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835804 | SCV002077205 | uncertain significance | Methylcobalamin deficiency type cblE | 2019-11-11 | no assertion criteria provided | clinical testing |