ClinVar Genomic variation as it relates to human health
NM_014049.4(ACAD9):c.[1846C>T];[359delT]
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 | |||
ACAD9 | - | - |
GRCh38 GRCh37 |
768 | 1035 | |
CFAP92 | - | - | - |
GRCh38 GRCh37 |
11 | 250 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 15, 2013 | RCV000199949.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024