ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.3(chr3:9221810-9727021)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 | |||
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
992 | 1058 | |
CPNE9 | - | - | - |
GRCh38 GRCh37 |
19 | 78 |
LHFPL4 | - | - |
GRCh38 GRCh37 |
3 | 62 | |
LOC122889027 | - | - | - | GRCh38 | - | 26 |
LOC122889028 | - | - | - | GRCh38 | - | 24 |
LOC129389020 | - | - | - | GRCh38 | - | 24 |
LOC129936118 | - | - | - | GRCh38 | - | 26 |
LOC129936119 | - | - | - | GRCh38 | - | 26 |
LOC129936120 | - | - | - | GRCh38 | - | 26 |
LOC129936121 | - | - | - | GRCh38 | - | 25 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050855.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023