ClinVar Genomic variation as it relates to human health
NC_000010.11:g.(?_84141501)_(84258639_?)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 | |||
C10orf99 | - | - |
GRCh38 GRCh37 |
- | 4 | |
CDHR1 | - | - |
GRCh38 GRCh37 |
895 | 946 | |
GHITM | - | - |
GRCh38 GRCh37 |
22 | 68 | |
LRIT1 | - | - |
GRCh38 GRCh37 |
61 | 108 | |
LRIT2 | - | - | - |
GRCh38 GRCh37 |
37 | 86 |
RGR | - | - |
GRCh38 GRCh37 |
280 | 327 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 22, 2019 | RCV001033820.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022