ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_14166684)_(14220439_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
950 | 994 | |
LSM3 | - | - |
GRCh38 GRCh37 |
4 | 32 | |
XPC | - | - |
GRCh38 GRCh37 |
987 | 1096 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 23, 2020 | RCV001384233.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024