ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.31(chr18:3899296-5433496)x3
Germline
Classification
(1)
Likely benign
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 | |||
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
DLGAP1 | - | - |
GRCh38 GRCh37 |
54 | 218 | |
EPB41L3 | - | - |
GRCh38 GRCh37 |
59 | 181 | |
ZBTB14 | - | - |
GRCh38 GRCh37 |
9 | 127 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 2, 2018 | RCV000762752.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022