ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_61197619)_(61552680_?)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 | |||
SDHAF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
542 | 558 | |
DAGLA | - | - |
GRCh38 GRCh37 |
55 | 70 | |
LRRC10B | - | - | - |
GRCh38 GRCh37 |
14 | 29 |
MYRF | - | - |
GRCh38 GRCh37 |
179 | 195 | |
PPP1R32 | - | - |
GRCh38 GRCh37 |
- | 6 | |
SYT7 | - | - |
GRCh38 GRCh37 |
14 | 29 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 23, 2022 | RCV003119804.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023