ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)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 | |||
AMZ1 | - | - |
GRCh38 GRCh37 |
68 | 120 | |
BRAT1 | - | - |
GRCh38 GRCh37 |
1196 | 1253 | |
CHST12 | - | - |
GRCh38 GRCh37 |
38 | 93 | |
EIF3B | - | - |
GRCh38 GRCh37 |
70 | 139 | |
GNA12 | - | - |
GRCh38 GRCh37 |
12 | 65 | |
IQCE | - | - |
GRCh38 GRCh37 |
120 | 186 | |
LFNG | - | - |
GRCh38 GRCh37 |
236 | 308 | |
TTYH3 | - | - |
GRCh38 GRCh37 |
34 | 81 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 18, 2023 | RCV003484672.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024