ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_78187951)_(78247223_?)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 | |||
RNF213 | - | - |
GRCh38 GRCh37 |
442 | 762 | |
SGSH | - | - |
GRCh38 GRCh38 GRCh37 |
997 | 1479 | |
SLC26A11 | - | - |
GRCh38 GRCh37 |
48 | 80 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 28, 2022 | RCV003122166.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023