ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_1554096)_(1680740_?)del
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 | |||
MIR22 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 86 | |
PRPF8 | - | - |
GRCh38 GRCh38 GRCh37 |
1341 | 1437 | |
SERPINF1 | - | - |
GRCh38 GRCh38 GRCh37 |
310 | 437 | |
SERPINF2 | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 155 | |
TLCD2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 104 |
WDR81 | - | - |
GRCh38 GRCh38 GRCh37 |
421 | 507 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 4, 2022 | RCV003109520.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023