ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_102937907)_(103629803_?)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 | |||
DNAJC2 | - | - |
GRCh38 GRCh37 |
- | 57 | |
PMPCB | - | - |
GRCh38 GRCh37 |
109 | 176 | |
PSMC2 | - | - |
GRCh38 GRCh37 |
- | 37 | |
RELN | - | - |
GRCh38 GRCh37 |
2675 | 3494 | |
SLC26A5 | - | - |
GRCh38 GRCh37 |
221 | 257 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 26, 2022 | RCV001951338.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023