ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)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 | |||
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
321 | 347 | |
ADSL | - | - |
GRCh38 GRCh37 |
834 | 862 | |
DNAJB7 | - | - |
GRCh38 GRCh37 |
- | 65 | |
MCHR1 | - | - |
GRCh38 GRCh37 |
42 | 69 | |
MRTFA | - | - |
GRCh38 GRCh37 |
669 | 696 | |
RBX1 | - | - |
GRCh38 GRCh37 |
1 | 29 | |
SGSM3 | - | - |
GRCh38 GRCh37 |
77 | 103 | |
SLC25A17 | - | - |
GRCh38 GRCh37 |
20 | 47 | |
ST13 | - | - |
GRCh38 GRCh37 |
23 | 52 | |
XPNPEP3 | - | - |
GRCh38 GRCh37 |
285 | 352 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 11, 2018 | RCV001007190.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022