ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_179296824)_(179518254_?)del
Germline
Classification
(1)
Likely pathogenic
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 |
11726 | 31215 | |
FKBP7 | - | - |
GRCh38 GRCh37 |
16 | 48 | |
PJVK | - | - |
GRCh38 GRCh37 |
247 | 284 | |
PLEKHA3 | - | - |
GRCh38 GRCh37 |
7 | 41 | |
PRKRA | - | - |
GRCh38 GRCh37 |
108 | 203 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 15, 2022 | RCV003105734.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023