ClinVar Genomic variation as it relates to human health
NM_005886.3(KATNB1):c.1558G>A (p.Asp520Asn)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
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 | |||
KATNB1 | - | - |
GRCh38 GRCh37 |
326 | 356 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 25, 2022 | RCV002958997.2 | |
Likely benign (1) |
|
Oct 13, 2023 | RCV002966869.2 | |
Uncertain significance (1) |
|
Jun 9, 2019 | RCV003134566.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024