ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_128804417)_(129131208_?)dup
Germline
Classification
(2)
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 | |||
ABHD18 | - | - | - |
GRCh38 GRCh37 |
18 | 63 |
LARP1B | - | - |
GRCh38 GRCh37 |
65 | 99 | |
MFSD8 | - | - |
GRCh38 GRCh37 |
951 | 997 | |
PLK4 | - | - |
GRCh38 GRCh37 |
579 | 624 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV000708382.4 | |
Uncertain significance (1) |
|
Sep 16, 2017 | RCV001305226.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024