ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_77317853)_(78466669_?)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 | |||
ADAMTS18 | - | - |
GRCh38 GRCh37 |
1088 | 1201 | |
CLEC3A | - | - |
GRCh38 GRCh37 |
5 | 76 | |
NUDT7 | - | - |
GRCh38 GRCh37 |
21 | 82 | |
VAT1L | - | - |
GRCh38 GRCh37 |
39 | 113 | |
WWOX | - | - |
GRCh38 GRCh37 |
883 | 1180 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 22, 2022 | RCV004582907.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024