Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000540838 | SCV000623891 | likely benign | Chédiak-Higashi syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000540838 | SCV001256833 | likely benign | Chédiak-Higashi syndrome | 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. |
| Genome Diagnostics Laboratory, |
RCV002263729 | SCV002543611 | likely benign | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002528294 | SCV003529472 | likely benign | Inborn genetic diseases | 2022-05-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |