ClinVar Genomic variation as it relates to human health
NM_004937.3(CTNS):c.561+3A>G
Germline
Classification
(2)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
CTNS | - | - |
GRCh38 GRCh37 |
501 | 904 | |
CTNS-AS1 | - | - | - | GRCh38 | - | 316 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 28, 2022 | RCV002927489.1 | |
Uncertain significance (1) |
|
Aug 4, 2023 | RCV003375717.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 28, 2023