ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.12(chr13:23686720-23915028)x1
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
C1QTNF9B | - | - |
GRCh38 GRCh37 |
12 | 108 | |
LOC130009379 | - | - | - | GRCh38 | - | 33 |
LOC130009380 | - | - | - | GRCh38 | - | 33 |
LOC130009381 | - | - | - | GRCh38 | - | 33 |
LOC130009382 | - | - | - | GRCh38 | - | 33 |
LOC130009383 | - | - | - | GRCh38 | - | 33 |
LOC130009384 | - | - | - | GRCh38 | - | 34 |
LOC130009385 | - | - | - | GRCh38 | - | 34 |
LOC130009386 | - | - | - | GRCh38 | - | 33 |
LOC130009387 | - | - | - | GRCh38 | - | 32 |
There are 2 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
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138621.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024