ClinVar Genomic variation as it relates to human health
NM_001166339.2(SPDYE2B):c.321G>A (p.Lys107=)
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 | |||
POLR2J2-UPK3BL1 | - | - | - | GRCh38 | - | 25 |
SPDYE2B | - | - | - |
GRCh38 GRCh37 |
- | 24 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 1, 2023 | RCV003457517.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024