ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p22.3(chr9:14420900-15379492)x1
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 | |||
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
893 | 1042 | |
CER1 | - | - |
GRCh38 GRCh37 |
19 | 125 | |
TTC39B | - | - |
GRCh38 GRCh37 |
68 | 172 | |
ZDHHC21 | - | - |
GRCh38 GRCh37 |
12 | 125 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 4, 2018 | RCV001006212.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022