ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_73464648)_(73768229_?)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 | |||
C10orf105 | - | - | - |
GRCh38 GRCh37 |
- | 514 |
CDH23 | - | - |
GRCh38 GRCh37 |
4694 | 5537 | |
CHST3 | - | - |
GRCh38 GRCh37 |
467 | 486 | |
PSAP | - | - |
GRCh38 GRCh37 |
866 | 923 | |
VSIR | - | - |
GRCh38 GRCh37 |
- | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 7, 2022 | RCV003111464.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024