ClinVar Genomic variation as it relates to human health
NM_001355436.2(SPTB):c.6518G>C (p.Arg2173Pro)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely 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 | |||
SPTB | - | - |
GRCh38 GRCh37 |
1023 | 1055 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 10, 2023 | RCV003296420.2 | |
Likely benign (1) |
|
Dec 1, 2022 | RCV003395744.10 | |
SPTB-related disorder
|
Likely benign (1) |
|
Oct 3, 2022 | RCV003954083.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024