ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p14.2(chr3:58870233-59620738)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 | |||
CFAP20DC | - | - | - |
GRCh38 GRCh37 |
2 | 32 |
CFAP20DC-AS1 | - | - | - | GRCh38 | - | 18 |
LOC122965319 | - | - | - | GRCh38 | - | 7 |
LOC126806693 | - | - | - | GRCh38 | - | 7 |
LOC126806694 | - | - | - | GRCh38 | - | 7 |
LOC129936953 | - | - | - | GRCh38 | - | 7 |
LOC129936954 | - | - | - | GRCh38 | - | 7 |
LOC129936955 | - | - | - | GRCh38 | - | 7 |
LOC129936956 | - | - | - | GRCh38 | - | 7 |
LOC129936957 | - | - | - | GRCh38 | - | 7 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000142700.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024