ClinVar Genomic variation as it relates to human health
NM_005982.4(SIX1):c.483C>T (p.Thr161=)
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 | |||
SIX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
176 | 222 | |
MIR9718 | - | - | - | GRCh38 | - | 26 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 27, 2023 | RCV003069639.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024