ClinVar Genomic variation as it relates to human health
NM_001099409.3(EHBP1L1):c.3761G>A (p.Arg1254Gln)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
EHBP1L1 | - | - |
GRCh38 GRCh37 |
124 | 139 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
EHBP1L1-related disorder
|
Likely benign (1) |
|
Dec 27, 2022 | RCV003954539.1 |
Uncertain significance (1) |
|
Mar 25, 2024 | RCV004621947.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024