ClinVar Genomic variation as it relates to human health
NM_001371623.1(TCOF1):c.3546C>T (p.Thr1182=)
Germline
Classification
(2)
Likely benign
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 | |||
TCOF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
783 | 821 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 27, 2023 | RCV002591298.2 | |
Likely benign (1) |
|
Feb 9, 2024 | RCV003936281.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024