ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.48638+1del
Germline
Classification
(2)
Pathogenic/Likely pathogenic
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 | |||
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11725 | 31212 | |
LOC126806426 | - | - | - | GRCh38 | - | 225 |
TTN-AS1 | - | - | - | GRCh38 | - | 17885 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 19, 2023 | RCV003322727.1 | |
Pathogenic (1) |
|
Sep 1, 2023 | RCV003326730.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024