ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.2(chr21:40219284-41569839)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
DSCAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
208 | 299 | |
B3GALT5 | - | - |
GRCh38 GRCh37 |
2 | 78 | |
BRWD1 | - | - |
GRCh38 GRCh37 |
163 | 241 | |
GET1 | - | - |
GRCh38 GRCh37 |
- | 133 | |
HMGN1 | - | - |
GRCh38 GRCh37 |
9 | 81 | |
IGSF5 | - | - |
GRCh38 GRCh37 |
25 | 109 | |
LCA5L | - | - | - |
GRCh38 GRCh37 |
- | 117 |
PCP4 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 82 | |
PSMG1 | - | - |
GRCh38 GRCh37 |
19 | 91 | |
SH3BGR | - | - |
GRCh38 GRCh37 |
- | 97 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 22, 2021 | RCV002472434.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022