ClinVar Genomic variation as it relates to human health
NM_018013.4(SOBP):c.2260C>T (p.Pro754Ser)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Benign(1)
Uncertain significance(2); 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 | |||
SOBP | - | - |
GRCh38 GRCh37 |
119 | 148 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 1, 2023 | RCV003427645.5 | |
Benign (1) |
|
Jul 31, 2019 | RCV003906605.1 | |
Uncertain significance (1) |
|
Aug 10, 2021 | RCV004190733.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024