ClinVar Genomic variation as it relates to human health
NM_000207.3(INS):c.188-40C>T
Germline
Classification
(1)
Likely benign
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 | |||
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 200 | |
INS-IGF2 | - | - | - |
GRCh38 GRCh37 |
- | 322 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
INS-related disorder
|
Likely benign (1) |
|
Aug 24, 2021 | RCV003969846.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024