ClinVar Genomic variation as it relates to human health
NM_014215.3(INSRR):c.2525C>T (p.Pro842Leu)
Germline
Classification
(1)
Uncertain significance
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 | |||
INSRR | - | - |
GRCh38 GRCh37 |
- | 152 | |
NTRK1 | - | - |
GRCh38 GRCh37 |
1341 | 1526 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 17, 2022 | RCV004193267.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 07, 2024