ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_47104692)_(47260195_?)dup
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 | |||
CALM3 | - | - |
GRCh38 GRCh37 |
157 | 178 | |
DACT3 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
FKRP | - | - |
GRCh38 GRCh37 |
1045 | 1087 | |
GNG8 | - | - | - |
GRCh38 GRCh37 |
1 | 18 |
PRKD2 | - | - |
GRCh38 GRCh37 |
38 | 65 | |
PTGIR | - | - |
GRCh38 GRCh37 |
32 | 49 | |
STRN4 | - | - |
GRCh38 GRCh37 |
46 | 92 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 17, 2021 | RCV001918807.12 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024