ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2-11.1(chr17:20465210-22261792)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 | |||
CDRT15L2 | - | - | - |
GRCh38 GRCh37 |
30 | 53 |
DHRS7B | - | - |
GRCh38 GRCh37 |
21 | 35 | |
KCNJ12 | - | - |
GRCh38 GRCh37 |
60 | 82 | |
LINC02693 | - | - | - |
GRCh38 GRCh37 |
5 | 27 |
MAP2K3 | - | - |
GRCh38 GRCh37 |
42 | 58 | |
MTRNR2L1 | - | - |
GRCh38 GRCh37 |
3 | 22 | |
NATD1 | - | - | - |
GRCh38 GRCh37 |
2 | 16 |
TMEM11 | - | - |
GRCh38 GRCh37 |
12 | 28 | |
USP22 | - | - |
GRCh38 GRCh37 |
8 | 22 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 13, 2017 | RCV000683910.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022