ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.4(chr11:70575193-70893208)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
SHANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
354 | 368 | |
LOC113939929 | - | - | - | GRCh38 | - | 2 |
LOC126861255 | - | - | - | GRCh38 | - | 2 |
LOC130006304 | - | - | - | GRCh38 | - | 2 |
MIR3664 | - | - | - | GRCh38 | - | 2 |
SHANK2-AS1 | - | - | - | GRCh38 | - | 2 |
SHANK2-AS3 | - | - | - | GRCh38 | - | 2 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 22, 2013 | RCV000141941.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024