ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.33(chr22:50974309-51197838)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 | |||
SHANK3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
793 | 1018 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 194 | |
ARSA | - | - |
GRCh38 GRCh37 |
1131 | 1298 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 541 | |
CPT1B | - | - |
GRCh38 GRCh37 |
- | 230 | |
KLHDC7B | - | - |
GRCh38 GRCh37 |
28 | 201 | |
MAPK8IP2 | - | - |
GRCh38 GRCh37 |
27 | 182 | |
SYCE3 | - | - |
GRCh38 GRCh37 |
4 | 162 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986193.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024