Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000358385 | SCV000458436 | likely benign | Disorders of Intracellular Cobalamin Metabolism | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Invitae | RCV000872621 | SCV001014468 | likely benign | Methylcobalamin deficiency type cblE | 2024-01-27 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002488786 | SCV002798453 | likely benign | Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive | 2021-09-01 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003957826 | SCV004767672 | likely benign | MTRR-related disorder | 2020-10-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
| Natera, |
RCV000872621 | SCV002077199 | benign | Methylcobalamin deficiency type cblE | 2020-01-19 | no assertion criteria provided | clinical testing |