ClinVar Genomic variation as it relates to human health
NM_000362.5(TIMP3):c.602dup (p.Asp202fs)
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 | |||
SYN3 | - | - |
GRCh38 GRCh37 |
49 | 330 | |
TIMP3 | - | - |
GRCh38 GRCh37 |
- | 279 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 12, 2023 | RCV002635890.3 | |
Likely benign (1) |
|
- | RCV004595669.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024