ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_20994491)_(23213917_?)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 | |||
CDCA7L | - | - |
GRCh38 GRCh37 |
26 | 202 | |
DNAH11 | - | - |
GRCh38 GRCh37 |
5328 | 5707 | |
HYCC1 | - | - |
GRCh38 GRCh37 |
337 | 376 | |
IL6 | - | - |
GRCh38 GRCh37 |
6 | 49 | |
IL6-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 43 |
KLHL7 | - | - |
GRCh38 GRCh37 |
351 | 386 | |
KLHL7-DT | - | - | - |
GRCh38 GRCh37 |
- | 35 |
RAPGEF5 | - | - |
GRCh38 GRCh37 |
39 | 70 | |
SP4 | - | - |
GRCh38 GRCh37 |
50 | 84 | |
STEAP1B | - | - | - |
GRCh38 GRCh37 |
9 | 41 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 14, 2021 | RCV001940076.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024