Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029518 | SCV000052169 | uncertain | Cystic fibrosis | 2011-08-18 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Counsyl | RCV000029518 | SCV000791780 | uncertain significance | Cystic fibrosis | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000029518 | SCV001000951 | likely benign | Cystic fibrosis | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000029518 | SCV002607647 | likely benign | Cystic fibrosis | 2022-10-20 | 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. |
ARUP Laboratories, |
RCV003114205 | SCV003800475 | uncertain significance | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing | The CFTR c.3139+8A>G variant (rs193922517) is reported in the literature in an individual with borderline sweat chloride levels (Schrijver 2005). This variant is reported in ClinVar (Variation ID: 35863) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice, however these predictors are not considered high quality. However, given the lack of clinical and functional data, the significance of the c.3139+8A>G variant is uncertain at this time. References: Schrijver I et al. Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn. 2005 May;7(2):289-99. PMID: 15858154. |
Prevention |
RCV004532408 | SCV004717475 | likely benign | CFTR-related disorder | 2023-09-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |