Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000269056 | SCV000449220 | benign | Fibrous dysplasia of jaw | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Labcorp Genetics |
RCV000269056 | SCV000750184 | benign | Fibrous dysplasia of jaw | 2024-01-23 | criteria provided, single submitter | clinical testing | |
| Center for Genomics, |
RCV000269056 | SCV000898973 | uncertain significance | Fibrous dysplasia of jaw | 2021-03-30 | criteria provided, single submitter | clinical testing | SH3BP2 NM_003023 exon 12 p.Ser505Cys (c.1514C>G): This variant has not been reported in the literature but is present in 0.8% (194/24030) of African alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs144577122). This variant is present in ClinVar (Variation ID:348593). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |