ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q29(chr3:197263782-197550798)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 | |||
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 153 | |
FYTTD1 | - | - |
GRCh38 GRCh37 |
15 | 76 | |
LRCH3 | - | - | - |
GRCh38 GRCh37 |
77 | 143 |
RUBCN | - | - |
GRCh38 GRCh37 |
133 | 194 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 4, 2019 | RCV000682362.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022