ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
C17orf75 | - | - | - |
GRCh38 GRCh37 |
2 | 16 |
CDK5R1 | - | - |
GRCh38 GRCh37 |
13 | 26 | |
MYO1D | - | - |
GRCh38 GRCh37 |
76 | 90 | |
PSMD11 | - | - |
GRCh38 GRCh37 |
19 | 33 | |
RHBDL3 | - | - |
GRCh38 GRCh37 |
26 | 44 | |
RHOT1 | - | - |
GRCh38 GRCh37 |
26 | 44 | |
ZNF207 | - | - |
GRCh38 GRCh37 |
22 | 36 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 2, 2018 | RCV000683916.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022