ClinVar Genomic variation as it relates to human health
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
3703 | 5024 | |
LOC111674467 | - | - | - | GRCh38 | - | 12 |
LOC111674468 | - | - | - | GRCh38 | - | 12 |
LOC111674477 | - | - | - | GRCh38 | - | 171 |
LOC113633874 | - | - | - | GRCh38 | - | 11 |
LOC113633875 | - | - | - | GRCh38 | - | 11 |
LOC113633876 | - | - | - | GRCh38 | - | 12 |
LOC113633877 | - | - | - | GRCh38 | - | 17 |
LOC126860160 | - | - | - | GRCh38 | - | 13 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 5, 2018 | RCV000785772.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023