ClinVar Genomic variation as it relates to human health
NM_181553.4(CMTM3):c.40C>A (p.Pro14Thr)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CMTM3 | - | - |
GRCh38 GRCh37 |
- | 39 | |
CMTM4 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
LOC130059158 | - | - | - | GRCh38 | - | 15 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 24, 2022 | RCV004439644.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024