ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_29422318)_(29701183_?)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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13555 | - | |
EVI2A | - | - |
GRCh38 GRCh38 GRCh37 |
- | 131 | |
EVI2B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 142 | |
LOC108281169 | - | - | - |
GRCh38 GRCh38 |
- | 30 |
LOC108281170 | - | - | - |
GRCh38 GRCh38 |
- | - |
LOC108281180 | - | - | - |
GRCh38 GRCh38 |
- | 36 |
LOC108281181 | - | - | - |
GRCh38 GRCh38 |
- | 34 |
LOC108281182 | - | - | - |
GRCh38 GRCh38 |
- | 37 |
LOC111811965 | - | - | - |
GRCh38 GRCh38 |
- | 187 |
LOC125177454 | - | - | - |
GRCh38 GRCh38 |
- | 31 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 9, 2019 | RCV000707937.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023