ClinVar Genomic variation as it relates to human health
NM_004517.4(ILK):c.482G>A (p.Arg161His)
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 | |||
ILK | - | - |
GRCh38 GRCh37 |
3 | 415 | |
TAF10 | - | - |
GRCh38 GRCh37 |
13 | 403 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 26, 2023 | RCV003775973.1 | |
Uncertain significance (1) |
|
Mar 3, 2022 | RCV004052203.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024