ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_102937907)_(103151472_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
RELN | No evidence available | No evidence available |
GRCh38 GRCh37 |
2699 | 3528 | |
DNAJC2 | - | - |
GRCh38 GRCh37 |
- | 60 | |
PMPCB | - | - |
GRCh38 GRCh37 |
113 | 184 | |
PSMC2 | - | - |
GRCh38 GRCh37 |
- | 39 | |
SLC26A5 | - | - |
GRCh38 GRCh37 |
229 | 267 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 31, 2022 | RCV001920573.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024