ClinVar Genomic variation as it relates to human health
NM_012464.5(TLL1):c.2783G>A (p.Arg928Gln)
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 | |||
TLL1 | - | - |
GRCh38 GRCh37 |
125 | 185 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 2, 2021 | RCV003141024.3 | |
Likely benign (1) |
|
Aug 1, 2022 | RCV003435983.8 | |
TLL1-related disorder
|
Likely benign (1) |
|
Sep 12, 2023 | RCV003928955.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024