ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q11.21(chr20:30582924-30860287)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 | |||
CCM2L | - | - | - |
GRCh38 GRCh37 |
36 | 56 |
HCK | - | - |
GRCh38 GRCh37 |
41 | 60 | |
PLAGL2 | - | - |
GRCh38 GRCh37 |
29 | 47 | |
POFUT1 | - | - |
GRCh38 GRCh37 |
106 | 125 | |
TM9SF4 | - | - |
GRCh38 GRCh37 |
27 | 47 | |
XKR7 | - | - | - |
GRCh38 GRCh37 |
35 | 55 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 2, 2022 | RCV003485212.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024