ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:4762588-4844009)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 | |||
C17orf107 | - | - | - |
GRCh38 GRCh37 |
- | 767 |
CHRNE | - | - |
GRCh38 GRCh37 |
344 | 1321 | |
GP1BA | - | - |
GRCh38 GRCh37 |
161 | 215 | |
MINK1 | - | - |
GRCh38 GRCh37 |
68 | 122 | |
RNF167 | - | - |
GRCh38 GRCh37 |
24 | 61 | |
SLC25A11 | - | - |
GRCh38 GRCh37 |
30 | 65 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000446549.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024