ClinVar Genomic variation as it relates to human health
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
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 | |||
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
937 | 980 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 27, 2022 | RCV002651036.2 | |
Likely benign (1) |
|
Jan 20, 2023 | RCV003162038.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024