ClinVar Genomic variation as it relates to human health
NM_021101.5(CLDN1):c.105T>C (p.Tyr35=)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
CLDN1 | - | - |
GRCh38 GRCh37 |
1 | 128 | |
CLDN16 | - | - |
GRCh38 GRCh37 |
216 | 345 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CLDN1-related disorder
|
Likely benign (1) |
|
Mar 19, 2021 | RCV003901412.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024