ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.3-14(chr15:31677578-34254499)x3
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 | |||
CHRNA7 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
127 | 393 | |
GREM1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
320 | 391 | |
OTUD7A | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
96 | 360 | |
ARHGAP11A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 123 | |
AVEN | - | - |
GRCh38 GRCh37 |
19 | 222 | |
GOLGA8N | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 61 |
GOLGA8O | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 74 |
RYR3 | - | - |
GRCh38 GRCh37 |
1488 | 1651 | |
SCG5 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
3 | 109 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV004442817.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024