ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:36836115-37099066)x3
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 | |||
CISD3 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 100 | |
CWC25 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 43 |
FBXO47 | - | - |
GRCh38 GRCh37 |
29 | 37 | |
LASP1 | - | - |
GRCh38 GRCh37 |
14 | 22 | |
MLLT6 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 65 | |
PCGF2 | - | - |
GRCh38 GRCh38 GRCh37 |
141 | 227 | |
PIP4K2B | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 26 | |
PSMB3 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 18 | |
RPL23 | - | - |
GRCh38 GRCh37 |
18 | 44 | |
SPMAP1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 6 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 4, 2022 | RCV003485156.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024