ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_62559699)_(62656066_?)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 | |||
DNAJC5 | - | - |
GRCh38 GRCh37 |
386 | 444 | |
PRPF6 | - | - |
GRCh38 GRCh37 |
572 | 672 | |
SAMD10 | - | - | - |
GRCh38 GRCh37 |
17 | 66 |
UCKL1 | - | - |
GRCh38 GRCh37 |
22 | 73 | |
ZNF512B | - | - |
GRCh38 GRCh37 |
77 | 125 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 26, 2020 | RCV001323558.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023