ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_29083885)_(29621477_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4050 | 4106 | |
C22orf31 | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
CCDC117 | - | - | - |
GRCh38 GRCh37 |
23 | 54 |
EMID1 | - | - |
GRCh38 GRCh37 |
26 | 62 | |
HSCB | - | - |
GRCh38 GRCh37 |
25 | 59 | |
KREMEN1 | - | - |
GRCh38 GRCh37 |
61 | 93 | |
XBP1 | - | - |
GRCh38 GRCh37 |
13 | 52 | |
ZNRF3 | - | - |
GRCh38 GRCh37 |
76 | 106 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 4, 2019 | RCV001033041.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024