ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.12(chr13:23525351-24910183)x3
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 | |||
C1QTNF9 | - | - |
GRCh38 GRCh37 |
25 | 100 | |
C1QTNF9B | - | - |
GRCh38 GRCh37 |
12 | 108 | |
MIPEP | - | - |
GRCh38 GRCh37 |
190 | 299 | |
PCOTH | - | - |
GRCh38 GRCh37 |
- | 120 | |
SACS | - | - |
GRCh38 GRCh37 |
4026 | 4221 | |
SGCG | - | - |
GRCh38 GRCh37 |
537 | 643 | |
SPATA13 | - | - |
GRCh38 GRCh37 |
105 | 188 | |
TNFRSF19 | - | - |
GRCh38 GRCh37 |
26 | 109 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 5, 2019 | RCV000683546.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022