ClinVar Genomic variation as it relates to human health
NM_014797.3(ZBTB24):c.2041C>T (p.Pro681Ser)
Germline
Classification
(2)
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 | |||
MICAL1 | - | - |
GRCh38 GRCh37 |
1004 | 1060 | |
ZBTB24 | - | - |
GRCh38 GRCh37 |
437 | 494 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 19, 2022 | RCV003093249.8 | |
Likely benign (1) |
|
Nov 1, 2022 | RCV003434572.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024