ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.12(chr13:23172478-23671209)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 | |||
LINC00327 | - | - | - | GRCh38 | - | 36 |
LOC130009362 | - | - | - | GRCh38 | - | 43 |
LOC130009363 | - | - | - | GRCh38 | - | 43 |
LOC130009364 | - | - | - | GRCh38 | - | 43 |
LOC130009365 | - | - | - | GRCh38 | - | 42 |
LOC130009366 | - | - | - | GRCh38 | - | 133 |
LOC130009367 | - | - | - | GRCh38 | - | 42 |
LOC130009368 | - | - | - | GRCh38 | - | 42 |
LOC130009369 | - | - | - | GRCh38 | - | 42 |
LOC130009370 | - | - | - | GRCh38 | - | 36 |
There are 15 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 | RCV000051983.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023