ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1
Germline
Classification
(1)
Likely 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 | |||
KMT2E | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
878 | 908 | |
DNAJC2 | - | - |
GRCh38 GRCh37 |
- | 57 | |
LHFPL3 | - | - |
GRCh38 GRCh37 |
13 | 40 | |
ORC5 | - | - |
GRCh38 GRCh37 |
19 | 40 | |
PMPCB | - | - |
GRCh38 GRCh37 |
109 | 176 | |
PSMC2 | - | - |
GRCh38 GRCh37 |
- | 37 | |
PUS7 | - | - |
GRCh38 GRCh37 |
85 | 115 | |
RELN | - | - |
GRCh38 GRCh37 |
2675 | 3494 | |
SLC26A5 | - | - |
GRCh38 GRCh37 |
221 | 257 | |
SRPK2 | - | - |
GRCh38 GRCh37 |
40 | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 19, 2017 | RCV000682896.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022