ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q33.1(chr13:102516631-102862008)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 | |||
BIVM | - | - |
GRCh38 GRCh37 |
- | 112 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 536 |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
481 | 582 |
ERCC5 | - | - |
GRCh38 GRCh37 |
1 | 529 | |
LOC130010070 | - | - | - | GRCh38 | - | 35 |
LOC130010071 | - | - | - | GRCh38 | - | 35 |
LOC130010072 | - | - | - | GRCh38 | - | 35 |
LOC130010073 | - | - | - | GRCh38 | - | 38 |
LOC130010074 | - | - | - | GRCh38 | - | 40 |
LOC130010075 | - | - | - | GRCh38 | - | 35 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052032.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023