ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_35182071)_(35873850_?)del
Germline
Classification
(2)
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 | |||
BAZ1A | - | - |
GRCh38 GRCh37 |
56 | 92 | |
CFL2 | - | - |
GRCh38 GRCh37 |
140 | 180 | |
FAM177A1 | - | - |
GRCh38 GRCh37 |
13 | 48 | |
NFKBIA | - | - |
GRCh38 GRCh37 |
228 | 322 | |
PPP2R3C | - | - |
GRCh38 GRCh37 |
3 | 63 | |
PRORP | - | - |
GRCh38 GRCh37 |
- | 81 | |
PSMA6 | - | - |
GRCh38 GRCh37 |
- | 40 | |
SRP54 | - | - |
GRCh38 GRCh37 |
243 | 271 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 19, 2022 | RCV003107717.3 | |
no classifications from unflagged records (1) |
|
- | RCV003113213.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023