ClinVar Genomic variation as it relates to human health
NM_018029.4(EBLN2):c.109A>G (p.Ile37Val)
Germline
Classification
(1)
Uncertain significance
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 | |||
EBLN2 | - | - |
GRCh38 GRCh37 |
- | 41 | |
PPP4R2 | - | - |
GRCh38 GRCh37 |
23 | 64 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 25, 2023 | RCV004382246.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024