ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.33(chr5:194236-306683)x1
Germline
Classification
(1)
Likely benign
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 | |||
AHRR | - | - |
GRCh38 GRCh37 |
1 | 241 | |
CCDC127 | - | - | - |
GRCh38 GRCh37 |
27 | 178 |
LRRC14B | - | - | - |
GRCh38 GRCh37 |
48 | 202 |
PDCD6 | - | - |
GRCh38 GRCh37 |
- | 171 | |
SDHA | - | - |
GRCh38 GRCh37 |
2725 | 2884 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 1, 2021 | RCV001834527.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022