ClinVar Genomic variation as it relates to human health
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)
Germline
Classification
(2)
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 | |||
DNAH11 | - | - |
GRCh38 GRCh37 |
5377 | 5757 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 19, 2023 | RCV003486074.2 | |
Pathogenic (1) |
|
Aug 28, 2023 | RCV003535030.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024