ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_62380754)_(62472984_?)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 | |||
B3GAT3 | - | - |
GRCh38 GRCh37 |
241 | 259 | |
BSCL2 | - | - |
GRCh38 GRCh37 |
5 | 567 | |
CSKMT | - | - |
GRCh38 GRCh37 |
- | 38 | |
GANAB | - | - |
GRCh38 GRCh37 |
357 | 376 | |
INTS5 | - | - |
GRCh38 GRCh37 |
69 | 87 | |
LBHD1 | - | - | - |
GRCh38 GRCh37 |
7 | 81 |
LRRN4CL | - | - | - |
GRCh38 GRCh37 |
20 | 37 |
ROM1 | - | - |
GRCh38 GRCh37 |
332 | 352 | |
UBXN1 | - | - |
GRCh38 GRCh37 |
19 | 37 | |
UQCC3 | - | - |
GRCh38 GRCh37 |
- | 49 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 16, 2022 | RCV001918889.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023