ClinVar Genomic variation as it relates to human health
NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter)
Germline
Classification
(2)
Pathogenic
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 | |||
CLRN1 | - | - |
GRCh38 GRCh37 |
366 | 414 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 10, 2022 | RCV002651756.2 | |
Pathogenic (1) |
|
Apr 8, 2023 | RCV003466001.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024