ClinVar Genomic variation as it relates to human health
NM_004343.4(CALR):c.703-3del
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 | |||
CALR | - | - |
GRCh38 GRCh37 |
21 | 71 | |
LOC126862861 | - | - | - | GRCh38 | - | 26 |
MIR6515 | - | - | - | GRCh38 | - | 11 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CALR-related disorder
|
Likely benign (1) |
|
Apr 25, 2022 | RCV003921686.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024