ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p14.2-14.1(chr3:62206958-63944889)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 | |||
ATXN7 | - | - |
GRCh38 GRCh37 |
71 | 109 | |
C3orf14 | - | - | - |
GRCh38 GRCh37 |
- | 6 |
CADPS | - | - |
GRCh38 GRCh37 |
80 | 95 | |
FEZF2 | - | - |
GRCh38 GRCh37 |
16 | 30 | |
PTPRG | - | - |
GRCh38 GRCh37 |
57 | 106 | |
SNTN | - | - |
GRCh38 GRCh37 |
7 | 21 | |
SYNPR | - | - | - |
GRCh38 GRCh37 |
12 | 30 |
THOC7 | - | - |
GRCh38 GRCh37 |
- | 26 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2018 | RCV001005440.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022