ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p22-21.3(chr8:18852451-19355561)x3
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 | |||
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 179 | |
LOC100128993 | - | - | - | GRCh38 | - | 45 |
LOC105379301 | - | - | - | GRCh38 | - | 45 |
LOC126860312 | - | - | - | GRCh38 | - | 44 |
LOC126860313 | - | - | - | GRCh38 | - | 45 |
LOC129999942 | - | - | - | GRCh38 | - | 46 |
LOC129999943 | - | - | - | GRCh38 | - | 46 |
SH2D4A | - | - |
GRCh38 GRCh37 |
36 | 135 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 27, 2013 | RCV000142194.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024