Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079014 | SCV000110883 | benign | not specified | 2016-05-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079014 | SCV000197433 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | 869+11C>T in intron 7 of CFTR: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 16.3% (1400/8596) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs1800503). |
Prevention |
RCV000079014 | SCV000304504 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001095296 | SCV000466506 | benign | CFTR-related disorders | 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. |
ARUP Laboratories, |
RCV001647052 | SCV000602973 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
CFTR- |
RCV000402385 | SCV001169196 | benign | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | the variant does not result in CFTR-RD neither |
Invitae | RCV000402385 | SCV001717926 | benign | Cystic fibrosis | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000402385 | SCV001748456 | benign | Cystic fibrosis | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001647052 | SCV001857418 | benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000402385 | SCV002507395 | benign | Cystic fibrosis | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000402385 | SCV002684492 | benign | Cystic fibrosis | 2014-11-19 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Natera, |
RCV000402385 | SCV001456052 | benign | Cystic fibrosis | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001095296 | SCV002507479 | benign | CFTR-related disorders | 2022-03-03 | no assertion criteria provided | clinical testing |