ClinVar Genomic variation as it relates to human health
NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val)
Germline
Classification
(6)
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 | |||
TNNT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
957 | 976 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 25, 2020 | RCV002460300.2 | |
Uncertain significance (1) |
|
Sep 13, 2022 | RCV003099603.3 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003454123.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003454125.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003454124.1 | |
Uncertain significance (1) |
|
May 4, 2023 | RCV004005635.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024