ClinVar Genomic variation as it relates to human health
NC_000012.12:g.23484745_23564581del
Germline
Classification
(1)
Pathogenic
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 | |||
SOX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
215 | 265 | |
LOC132090076 | - | - | - | GRCh38 | - | 14 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 17, 2016 | RCV000207477.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
NCBI staff reviewed the sequence information reported in PubMed 22290657 Table 2 to determine the location of this allele on the current reference sequence.