ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p11.1(chr12:33392214-33943704)x1
Germline
Classification
(1)
conflicting data from submitters
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 | |||
LOC116268437 | - | - | - | GRCh38 | - | 14 |
SYT10 | - | - | - |
GRCh38 GRCh37 |
38 | 76 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
conflicting data from submitters (1) |
|
Feb 4, 2013 | RCV000140859.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024