ClinVar Genomic variation as it relates to human health
NM_024734.4(CLMN):c.15G>A (p.Glu5=)
Germline
Classification
(1)
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 | |||
CLMN | - | - |
GRCh38 GRCh37 |
100 | 127 | |
LOC130056366 | - | - | - | GRCh38 | - | 9 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CLMN-related disorder
|
Benign (1) |
|
Dec 6, 2019 | RCV003982297.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024