ClinVar Genomic variation as it relates to human health
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1)
Uncertain significance(1); 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 | |||
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1897 | 2028 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 10, 2024 | RCV002909035.2 | |
not provided (1) |
|
- | RCV003234211.2 | |
RAI1-related disorder
|
Uncertain significance (1) |
|
Dec 11, 2023 | RCV003403948.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024