ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q29(chr3:196657995-197656512)x1
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 | |||
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 148 | |
DLG1 | - | - |
GRCh38 GRCh37 |
66 | 173 | |
FYTTD1 | - | - |
GRCh38 GRCh37 |
13 | 73 | |
IQCG | - | - |
GRCh38 GRCh37 |
23 | 198 | |
LRCH3 | - | - | - |
GRCh38 GRCh37 |
68 | 133 |
MELTF | - | - |
GRCh38 GRCh37 |
12 | 115 | |
NCBP2 | - | - |
GRCh38 GRCh37 |
4 | 106 | |
PIGZ | - | - |
GRCh38 GRCh37 |
63 | 165 | |
RUBCN | - | - |
GRCh38 GRCh37 |
121 | 181 | |
SENP5 | - | - |
GRCh38 GRCh37 |
41 | 145 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986431.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024