ClinVar Genomic variation as it relates to human health
NR_002196.1(H19):n.-7080_-1781del
Germline
Classification
(2)
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 | |||
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 87 | |
H19-ICR | - | - |
GRCh38 GRCh38 |
1 | 33 | |
MRPL23 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 100 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2008 | RCV000149876.3 | |
Pathogenic (1) |
|
Nov 1, 2008 | RCV000149877.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023
A 5.3 kb deletion from the H19/IGF2 imprinting control region.