ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_62414014)_(62439586_?)dup
Germline
Classification
(1)
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 | |||
CSKMT | - | - |
GRCh38 GRCh37 |
- | 38 | |
GANAB | - | - |
GRCh38 GRCh37 |
366 | 385 | |
INTS5 | - | - |
GRCh38 GRCh37 |
69 | 87 | |
LBHD1 | - | - | - |
GRCh38 GRCh37 |
7 | 81 |
UQCC3 | - | - |
GRCh38 GRCh37 |
- | 49 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 25, 2024 | RCV004580383.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024