ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q22.3(chr11:104032613-105293148)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 | |||
CARD16 | - | - |
GRCh38 GRCh37 |
18 | 48 | |
CARD17 | - | - |
GRCh38 GRCh37 |
15 | 43 | |
CARD18 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
CASP1 | - | - |
GRCh38 GRCh37 |
40 | 70 | |
CASP12 | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 61 | |
CASP4 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 54 | |
CASP5 | - | - |
GRCh38 GRCh37 |
28 | 63 | |
PDGFD | - | - |
GRCh38 GRCh37 |
19 | 93 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 13, 2017 | RCV000847024.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023