ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_3533479)_(3571820_?)dup
Germline
Classification
(2)
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 | |||
CTNS | - | - |
GRCh38 GRCh37 |
500 | 905 | |
SHPK | - | - |
GRCh38 GRCh37 |
146 | 263 | |
TAX1BP3 | - | - |
GRCh38 GRCh37 |
- | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 21, 2022 | RCV003113612.2 | |
no classifications from unflagged records (1) |
|
- | RCV003113611.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023