ClinVar Genomic variation as it relates to human health
NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)
Germline
Classification
(3)
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 |
5393 | 5773 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 6, 2021 | RCV002471440.2 | |
Pathogenic (2) |
|
Dec 11, 2023 | RCV002571454.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024