ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p24.2(chr2:16926193-18225507)x3
Germline
Classification
(1)
Likely benign
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 | |||
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
608 | 634 | |
KCNS3 | - | - |
GRCh38 GRCh37 |
32 | 56 | |
MSGN1 | - | - |
GRCh38 GRCh37 |
15 | 39 | |
RAD51AP2 | - | - | - |
GRCh38 GRCh37 |
64 | 97 |
SMC6 | - | - |
GRCh38 GRCh37 |
34 | 60 | |
VSNL1 | - | - |
GRCh38 GRCh37 |
4 | 29 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 21, 2020 | RCV000682127.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022