ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q22.3-23(chr3:138525030-139146538)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
FOXL2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
232 | 267 | |
COPB2 | - | - |
GRCh38 GRCh37 |
92 | 120 | |
FOXL2NB | - | - | - |
GRCh38 GRCh37 |
11 | 45 |
MRPS22 | - | - |
GRCh38 GRCh37 |
164 | 209 | |
PRR23A | - | - | - |
GRCh38 GRCh37 |
16 | 47 |
PRR23B | - | - | - |
GRCh38 GRCh37 |
26 | 56 |
PRR23C | - | - | - |
GRCh38 GRCh37 |
24 | 54 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 25, 2017 | RCV000682310.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022