ClinVar Genomic variation as it relates to human health
NM_001386135.1(AFF3):c.1788del (p.Asp598fs)
Germline
Classification
(2)
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 | |||
AFF3 | - | - |
GRCh38 GRCh37 |
147 | 169 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
AFF3-related disorder
|
Benign (1) |
|
May 21, 2019 | RCV003974470.1 |
Benign (1) |
|
May 4, 2023 | RCV003994609.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024