ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1
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 | |||
CDK10 | - | - |
GRCh38 GRCh37 |
83 | 159 | |
CHMP1A | - | - |
GRCh38 GRCh37 |
198 | 274 | |
CPNE7 | - | - |
GRCh38 GRCh37 |
66 | 137 | |
DPEP1 | - | - |
GRCh38 GRCh37 |
19 | 92 | |
FANCA | - | - |
GRCh38 GRCh37 |
4075 | 5201 | |
SPATA2L | - | - | - |
GRCh38 GRCh37 |
33 | 100 |
SPATA33 | - | - |
GRCh38 GRCh37 |
16 | 91 | |
SPIRE2 | - | - |
GRCh38 GRCh37 |
75 | 149 | |
VPS9D1 | - | - |
GRCh38 GRCh37 |
30 | 111 | |
ZNF276 | - | - |
GRCh38 GRCh37 |
46 | 844 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 6, 2022 | RCV002472747.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022