ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2794763-2993610)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ELOB | - | - |
GRCh38 GRCh37 |
19 | 61 | |
FLYWCH1 | - | - | - |
GRCh38 GRCh37 |
116 | 165 |
FLYWCH2 | - | - | - |
GRCh38 GRCh37 |
8 | 53 |
PRSS21 | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 67 | |
PRSS22 | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 67 | |
PRSS33 | - | - |
GRCh38 GRCh37 |
26 | 67 | |
PRSS41 | - | - | - |
GRCh38 GRCh37 |
3 | 46 |
SRRM2 | - | - |
GRCh38 GRCh37 |
535 | 589 | |
ZG16B | - | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 66 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 23, 2022 | RCV002472811.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023