Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000373435 | SCV000426812 | likely benign | Congenital hyperammonemia, type I | 2018-01-13 | 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. |
| Gene |
RCV000600453 | SCV000725311 | likely benign | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Invitae | RCV000373435 | SCV001006013 | benign | Congenital hyperammonemia, type I | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV000865101 | SCV001153284 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | CPS1: BP4, BP7 |
| Natera, |
RCV000373435 | SCV002076203 | likely benign | Congenital hyperammonemia, type I | 2019-10-24 | no assertion criteria provided | clinical testing |