Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000273395 | SCV000426034 | likely benign | Cranioectodermal dysplasia 2 | 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. |
| Illumina Laboratory Services, |
RCV000312074 | SCV000426035 | likely benign | Short-rib thoracic dysplasia 7 with or without polydactyly | 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 | RCV000878115 | SCV001020969 | benign | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly | 2023-12-13 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001574327 | SCV001801124 | likely benign | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001574327 | SCV002050202 | uncertain significance | not provided | 2020-10-18 | criteria provided, single submitter | clinical testing | The WDR35 c.1624C>G, p.Leu542Val variant (rs148242353), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 333393). This variant is found in the African population with an allele frequency of 0.7% (184/24972 alleles, including zero homozygotes) in the Genome Aggregation Database. The leucine at codon 542 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.36). Due to limited information, the clinical significance of the p.Leu542Val variant is uncertain at this time. Pathogenic WDR35 variants are associated with autosomal recessive cranioectodermal dysplasia 2 (MIM:613610) and short-rib thoracic dysplasia 7 with or without polydactyly (MIM:614091). If this variant is later determined to be pathogenic, this patient would be predicted to be affected with and/or a carrier; however, this analysis does not detect variants in deep intronic or regulatory regions, so additional pathogenic variants in these regions have not been excluded. |