ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.11(chr19:18327675-18543341)
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 | |||
GDF15 | - | - |
GRCh38 GRCh37 |
33 | 44 | |
IQCN | - | - |
GRCh38 GRCh37 |
133 | 144 | |
JUND | - | - |
GRCh38 GRCh37 |
23 | 36 | |
LRRC25 | - | - |
GRCh38 GRCh37 |
22 | 33 | |
LSM4 | - | - |
GRCh38 GRCh37 |
4 | 15 | |
PDE4C | - | - |
GRCh38 GRCh37 |
37 | 51 | |
PGPEP1 | - | - |
GRCh38 GRCh37 |
14 | 25 | |
SSBP4 | - | - |
GRCh38 GRCh37 |
30 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052677.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023