ClinVar Genomic variation as it relates to human health
NG_011713.1:g.(9959_65910)_(67647_83034)del
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 | |||
IGF1 | - | - |
GRCh38 GRCh37 |
3 | 198 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 31, 1996 | RCV000015910.28 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024
NCBI staff provided an HGVS expression for allelic variant 147440.0001 based on the exon numbering and exon boundaries reported in the paper by Chew et al., 1995 (PubMed 7720641).