Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001166800 | SCV001329216 | likely benign | Hereditary factor VIII deficiency disease | 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. |
| Ambry Genetics | RCV002558637 | SCV003536864 | uncertain significance | Inborn genetic diseases | 2022-11-17 | criteria provided, single submitter | clinical testing | The c.2212T>G (p.Y738D) alteration is located in exon 14 (coding exon 14) of the F8 gene. This alteration results from a T to G substitution at nucleotide position 2212, causing the tyrosine (Y) at amino acid position 738 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |