ClinVar Genomic variation as it relates to human health
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)
Germline
Classification
(1)
Likely pathogenic
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 | |||
CIC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
551 | 567 | |
PAFAH1B3 | - | - |
GRCh38 GRCh37 |
16 | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 12, 2023 | RCV003447910.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2023