ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p14(chr10:7377293-9129131)x1
Germline
Classification
(1)
Pathogenic
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 | |||
GATA3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
342 | 386 | |
ATP5F1C | - | - |
GRCh38 GRCh37 |
9 | 42 | |
ITIH2 | - | - |
GRCh38 GRCh37 |
67 | 98 | |
ITIH5 | - | - |
GRCh38 GRCh37 |
85 | 117 | |
KIN | - | - |
GRCh38 GRCh37 |
20 | 50 | |
SFMBT2 | - | - |
GRCh38 GRCh37 |
50 | 80 | |
TAF3 | - | - |
GRCh38 GRCh37 |
44 | 79 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000448295.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024