ClinVar Genomic variation as it relates to human health
NM_006531.5(IFT88):c.1309A>C (p.Ile437Leu)
Germline
Classification
(2)
Uncertain significance
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 | |||
IFT88 | - | - |
GRCh38 GRCh37 |
418 | 473 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 16, 2022 | RCV003002395.2 | |
Uncertain significance (1) |
|
Jan 3, 2024 | RCV004068397.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024