ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_29422322)_(29665163_?)del
Germline
Classification
(1)
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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13562 | 13969 | |
EVI2A | - | - |
GRCh38 GRCh38 GRCh37 |
- | 133 | |
EVI2B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 152 | |
OMG | - | - |
GRCh38 GRCh38 GRCh37 |
- | 135 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 31, 2017 | RCV001384699.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022