ClinVar Genomic variation as it relates to human health
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
Germline
Classification
(5)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(4)
Pathogenic(1); Uncertain significance(4)
criteria provided, conflicting classifications
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 |
946 | 964 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 23, 2022 | RCV002435974.1 | |
Pathogenic (1) |
|
Oct 2, 2023 | RCV003102987.2 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455511.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455510.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455512.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024