ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.3140-16T>A
Germline
Classification
(3)
Pathogenic
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CFTR | - | - |
GRCh38 GRCh37 |
3806 | 5170 | |
LOC111674472 | - | - | - | GRCh38 | - | 398 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Oct 3, 2022 | RCV002284531.3 | |
Pathogenic (1) |
|
Jan 21, 2024 | RCV004572120.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024