ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p25.1(chr6:4815620-5304909)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 | |||
CDYL | - | - |
GRCh38 GRCh37 |
34 | 81 | |
FARS2 | - | - |
GRCh38 GRCh37 |
329 | 612 | |
LYRM4 | - | - |
GRCh38 GRCh37 |
3 | 191 | |
PPP1R3G | - | - |
GRCh38 GRCh37 |
- | 90 | |
RPP40 | - | - |
GRCh38 GRCh37 |
18 | 65 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 5, 2020 | RCV001258900.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022