ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:33766040-34001896)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 | |||
AP2B1 | - | - |
GRCh38 GRCh37 |
20 | 31 | |
PEX12 | - | - |
GRCh38 GRCh37 |
511 | 522 | |
SLFN12 | - | - |
GRCh38 GRCh37 |
35 | 53 | |
SLFN12L | - | - |
GRCh38 GRCh37 |
28 | 42 | |
SLFN13 | - | - |
GRCh38 GRCh37 |
78 | 94 | |
SLFN14 | - | - |
GRCh38 GRCh37 |
82 | 118 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 1, 2022 | RCV002286602.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024