ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.42(chr19:53963333-54421591)x3
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 | |||
CACNG7 | - | - |
GRCh38 GRCh37 |
15 | 40 | |
DPRX | - | - |
GRCh38 GRCh37 |
9 | 33 | |
MIR371A | - | - |
GRCh38 GRCh37 |
- | 27 | |
MIR372 | - | - |
GRCh38 GRCh37 |
- | 27 | |
MIR373 | - | - |
GRCh38 GRCh37 |
- | 27 | |
MIR519D | - | - |
GRCh38 GRCh37 |
- | 26 | |
MIR520H | - | - |
GRCh38 GRCh37 |
- | 26 | |
MYADM | - | - |
GRCh38 GRCh37 |
20 | 48 | |
NLRP12 | - | - |
GRCh38 GRCh37 |
1173 | 1202 | |
PRKCG | - | - |
GRCh38 GRCh37 |
305 | 335 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 7, 2022 | RCV003485201.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024