Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins NTD LLC |
RCV000079007 | SCV000110876 | benign | not specified | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079007 | SCV000197443 | benign | not specified | 2013-09-27 | criteria provided, single submitter | clinical testing | Gln1463Gln in exon 27 of CFTR: This variant does not alter an amino acid and is not in a consensus splice sequence. It was identified in 21.6% (1861/8600) of European American and 24.4% (1077/4406) of African American chromosomose from a broad population screened by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu). |
Prevention |
RCV000079007 | SCV000304499 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001095184 | SCV000466531 | likely benign | CFTR-related disorders | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ARUP Laboratories, |
RCV001811359 | SCV000602976 | benign | not provided | 2022-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079007 | SCV000729755 | benign | not specified | 2018-02-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000353586 | SCV001000412 | benign | Cystic fibrosis | 2021-12-17 | criteria provided, single submitter | clinical testing | |
CFTR- |
RCV000353586 | SCV001169201 | benign | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | the variant does not result in CFTR-RD neither |
Ambry Genetics | RCV001022402 | SCV001184133 | benign | Inborn genetic diseases | 2014-11-19 | criteria provided, single submitter | clinical testing | General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Genome- |
RCV000353586 | SCV001748541 | benign | Cystic fibrosis | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000353586 | SCV002507317 | benign | Cystic fibrosis | 2019-07-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256041 | SCV002529733 | benign | Hereditary pancreatitis | 2020-02-24 | criteria provided, single submitter | curation | |
Genetic Services Laboratory, |
RCV000079007 | SCV000150656 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Diagnostic Laboratory, |
RCV000079007 | SCV001740204 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000079007 | SCV001929943 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000079007 | SCV001965616 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001095184 | SCV002075982 | benign | CFTR-related disorders | 2017-03-29 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001095184 | SCV002507401 | benign | CFTR-related disorders | 2019-07-23 | no assertion criteria provided | clinical testing |