ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p13(chr20:1015167-1403720)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
C20orf202 | - | - | - |
GRCh38 GRCh37 |
1 | 53 |
FKBP1A | - | - |
GRCh38 GRCh37 |
- | 50 | |
PSMF1 | - | - |
GRCh38 GRCh37 |
24 | 75 | |
RAD21L1 | - | - |
GRCh38 GRCh37 |
36 | 88 | |
SDCBP2 | - | - |
GRCh38 GRCh37 |
- | 65 | |
SNPH | - | - |
GRCh38 GRCh37 |
22 | 68 | |
TMEM74B | - | - | - |
GRCh38 GRCh37 |
19 | 71 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 6, 2022 | RCV002473606.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022