ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:47563979-48004323)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 | |||
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
142 | 254 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
273 | 395 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
FTCD | - | - |
GRCh38 GRCh38 GRCh37 |
256 | 431 | |
MCM3AP | - | - |
GRCh38 GRCh37 |
946 | 1465 | |
PCNT | - | - |
GRCh38 GRCh37 |
3602 | 3778 | |
SPATC1L | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 160 | |
YBEY | - | - |
GRCh38 GRCh37 |
13 | 133 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 4, 2017 | RCV000684146.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023