ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.2-31.31(chr7:117382934-119178959)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 | |||
ANKRD7 | - | - |
GRCh38 GRCh37 |
13 | 38 | |
CTTNBP2 | - | - |
GRCh38 GRCh37 |
113 | 140 | |
LSM8 | - | - |
GRCh38 GRCh37 |
1 | 27 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 15, 2018 | RCV000682893.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022