ClinVar Genomic variation as it relates to human health
NM_022340.4(RBSN):c.557T>C (p.Met186Thr)
Germline
Classification
(2)
Uncertain significance
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 | |||
RBSN | - | - |
GRCh38 GRCh37 |
60 | 82 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 1, 2023 | RCV003435910.5 | |
Uncertain significance (1) |
|
Sep 28, 2022 | RCV004138903.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024