ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q23.3(chr16:81838176-82450270)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 | |||
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
35 | 88 | |
HSD17B2 | - | - |
GRCh38 GRCh37 |
41 | 103 | |
MPHOSPH6 | - | - |
GRCh38 GRCh37 |
16 | 75 | |
PLCG2 | - | - |
GRCh38 GRCh37 |
1470 | 1520 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 31, 2016 | RCV000416158.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024