ClinVar Genomic variation as it relates to human health
NM_175875.5(SIX5):c.246G>A (p.Thr82=)
Germline
Classification
(2)
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 | |||
DM1-AS | - | - | - | GRCh38 | - | 347 |
LOC107075317 | - | - | - | GRCh38 | - | 414 |
LOC129929037 | - | - | - | GRCh38 | - | 37 |
SIX5 | - | - |
GRCh38 GRCh37 |
178 | 369 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 11, 2023 | RCV003722634.2 | |
SIX5-related disorder
|
Uncertain significance (1) |
|
Dec 24, 2023 | RCV003901311.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024