ClinVar Genomic variation as it relates to human health
NM_033343.4(LHX4):c.498C>T (p.Ala166=)
Germline
Classification
(2)
Likely benign
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 | |||
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
60 | 188 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
18 | 141 | |
LHX4-AS1 | - | - | - | GRCh38 | - | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 28, 2022 | RCV003722171.1 | |
Likely benign (1) |
|
Jun 20, 2023 | RCV003948958.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024