ClinVar Genomic variation as it relates to human health
NM_001177701.3(IFT27):c.199G>A (p.Gly67Ser)
Germline
Classification
(2)
Uncertain significance
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 | |||
CACNG2-DT | - | - | - | GRCh38 | - | 110 |
IFT27 | - | - |
GRCh38 GRCh37 |
50 | 181 | |
LOC126863139 | - | - | - | GRCh38 | - | 25 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 10, 2022 | RCV002583314.3 | |
IFT27-related disorder
|
Uncertain significance (1) |
|
Dec 11, 2023 | RCV003896229.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024