ClinVar Genomic variation as it relates to human health
NC_000004.12:g.670405_677862del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 165 | |
MYL5 | - | - |
GRCh38 GRCh37 |
- | 173 | |
PDE6B | - | - |
GRCh38 GRCh37 |
970 | 1258 | |
SLC49A3 | - | - |
GRCh38 GRCh37 |
48 | 222 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 3, 2022 | RCV002302863.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 07, 2023