ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CCDC134 | - | - |
GRCh38 GRCh37 |
24 | 54 | |
CENPM | - | - |
GRCh38 GRCh37 |
6 | 38 | |
MEI1 | - | - |
GRCh38 GRCh37 |
120 | 155 | |
MIR33A | - | - |
GRCh38 GRCh37 |
- | 29 | |
SEPTIN3 | - | - |
GRCh38 GRCh37 |
13 | 45 | |
SHISA8 | - | - |
GRCh38 GRCh37 |
37 | 77 | |
SREBF2 | - | - |
GRCh38 GRCh37 |
128 | 162 | |
TNFRSF13C | - | - |
GRCh38 GRCh37 |
55 | 191 | |
WBP2NL | - | - |
GRCh38 GRCh37 |
28 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 19, 2020 | RCV001258784.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022