ClinVar Genomic variation as it relates to human health
NC_000010.11:g.(?_110644435)_(110823634_?)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 | |||
LOC111875823 | - | - | - | GRCh38 | - | 7 |
LOC126861041 | - | - | - | GRCh38 | - | 7 |
LOC130004733 | - | - | - | GRCh38 | - | 7 |
LOC130004734 | - | - | - | GRCh38 | - | 10 |
RBM20 | - | - |
GRCh38 GRCh37 |
1816 | 1851 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2021 | RCV000647201.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023