ClinVar Genomic variation as it relates to human health
NM_015978.3(TNNI3K):c.1389T>G (p.Ile463Met)
Germline
Classification
(4)
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 | |||
FPGT-TNNI3K | - | - | - |
GRCh38 GRCh37 |
- | 1096 |
TNNI3K | - | - |
GRCh38 GRCh37 |
- | 1044 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Sep 25, 2023 | RCV002605900.3 | |
Uncertain significance (1) |
|
Jan 23, 2023 | RCV003161923.2 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003349040.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024