Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000395590 | SCV000342726 | uncertain significance | not provided | 2016-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086026 | SCV001021197 | likely benign | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001143732 | SCV001304282 | uncertain significance | Cranioectodermal dysplasia 2 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV001143733 | SCV001304283 | uncertain significance | Short-rib thoracic dysplasia 7 with or without polydactyly | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
ARUP Laboratories, |
RCV000395590 | SCV001470930 | uncertain significance | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | The WDR35 c.1183A>T; p.Asn395Tyr variant (rs143343508) is reported in a fetus affected with short-rib polydactyly syndromes without biallelic pathogenic findings, no functional or segregation data were provided (Zhang 2018). This variant is also reported in ClinVar (Variation ID: 288569) and is found in the non-Finnish European population with an allele frequency of 0.27% (342/128,986 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.26). Due to limited information, the clinical significance of the p.Asn395Tyr variant is uncertain at this time. References: Zhang et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166. PMID: 29068549. |
Ce |
RCV000395590 | SCV001501757 | uncertain significance | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278315 | SCV002567177 | uncertain significance | Connective tissue disorder | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Dan Cohn Lab, |
RCV000515966 | SCV000612115 | uncertain significance | Short-rib thoracic dysplasia 6 with or without polydactyly | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515966 | SCV001479551 | likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | no assertion criteria provided | research |