ClinVar Genomic variation as it relates to human health
t(X;19)(p21.2;q13.41)dn
Germline
Classification
(2)
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 | |||
IL1RAPL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
275 | 442 | |
ZNF611 | - | - | - |
GRCh38 GRCh37 |
57 | 76 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV000727544.3 | |
Uncertain significance (1) |
|
Mar 1, 2015 | RCV003334392.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023