ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(2); Uncertain significance(1)
Likely pathogenic(2); Uncertain significance(1)
criteria provided, conflicting classifications
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 |
3804 | 5168 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (2) |
|
Nov 21, 2023 | RCV002326194.3 | |
CFTR-related disorder
|
Uncertain significance (1) |
|
Oct 20, 2022 | RCV004534050.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024