ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_52109903)_(53164416_?)del
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 | |||
BAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2777 | 2793 | |
ALAS1 | - | - |
GRCh38 GRCh37 |
32 | 44 | |
DNAH1 | - | - |
GRCh38 GRCh37 |
2166 | 2184 | |
GLT8D1 | - | - |
GRCh38 GRCh37 |
20 | 31 | |
GLYCTK | - | - |
GRCh38 GRCh37 |
170 | 182 | |
GNL3 | - | - |
GRCh38 GRCh37 |
25 | 36 | |
ITIH1 | - | - |
GRCh38 GRCh37 |
65 | 92 | |
ITIH3 | - | - |
GRCh38 GRCh37 |
62 | 75 | |
ITIH4 | - | - |
GRCh38 GRCh37 |
66 | 92 | |
MIRLET7G | - | - |
GRCh38 GRCh37 |
- | 12 |
There are 20 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 3, 2022 | RCV003122979.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023