ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
Germline
Classification
(6)
Uncertain significance
criteria provided, single submitter
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 |
11956 | 31845 | |
TTN-AS1 | - | - | - | GRCh38 | - | 18261 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 9, 2022 | RCV003148011.1 | |
Uncertain significance (1) |
|
Nov 9, 2022 | RCV003148013.1 | |
Uncertain significance (1) |
|
Nov 9, 2022 | RCV003148014.1 | |
Uncertain significance (1) |
|
Nov 9, 2022 | RCV003148009.1 | |
Uncertain significance (1) |
|
Nov 9, 2022 | RCV003148010.1 | |
Uncertain significance (1) |
|
Nov 9, 2022 | RCV003148012.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2024