ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q11.2(chr5:55063434-55686587)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 | |||
ANKRD55 | - | - |
GRCh38 GRCh37 |
48 | 60 | |
DDX4 | - | - |
GRCh38 GRCh37 |
33 | 47 | |
IL31RA | - | - |
GRCh38 GRCh37 |
58 | 72 | |
IL6ST | - | - |
GRCh38 GRCh37 |
450 | 464 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 28, 2021 | RCV002475762.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022