ClinVar Genomic variation as it relates to human health
NM_005077.5(TLE1):c.1482C>T (p.Asn494=)
Germline
Classification
(1)
Likely 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 | |||
LOC126860655 | - | - | - | GRCh38 | - | 17 |
TLE1 | - | - |
GRCh38 GRCh37 |
28 | 63 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 1, 2022 | RCV003425693.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024