ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.86822-8T>G
Germline
Classification
(7)
Conflicting classifications of pathogenicity
Uncertain significance(6); Likely benign(1)
Uncertain significance(6); Likely benign(1)
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 | |||
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11660 | 30937 | |
TTN-AS1 | - | - | - | GRCh38 | - | 17689 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 15, 2021 | RCV003147843.1 | |
Uncertain significance (1) |
|
Jan 15, 2021 | RCV003147845.1 | |
Uncertain significance (1) |
|
Jan 15, 2021 | RCV003147847.1 | |
Uncertain significance (1) |
|
Mar 5, 2021 | RCV003147848.1 | |
Uncertain significance (1) |
|
Jan 15, 2021 | RCV003147844.1 | |
Uncertain significance (1) |
|
Jan 15, 2021 | RCV003147846.1 | |
Likely benign (1) |
|
Jul 17, 2023 | RCV003778885.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024