ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3
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 | |||
ABI3BP | - | - |
GRCh38 GRCh37 |
62 | 75 | |
ADGRG7 | - | - |
GRCh38 GRCh37 |
63 | 78 | |
ARL13B | - | - |
GRCh38 GRCh37 |
328 | 376 | |
ARL6 | - | - |
GRCh38 GRCh37 |
248 | 272 | |
CEP97 | - | - |
GRCh38 GRCh37 |
211 | 231 | |
CLDND1 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
CMSS1 | - | - | - |
GRCh38 GRCh37 |
13 | 132 |
COL8A1 | - | - |
GRCh38 GRCh37 |
34 | 49 | |
CPOX | - | - |
GRCh38 GRCh37 |
187 | 285 | |
CRYBG3 | - | - |
GRCh38 GRCh37 |
11 | 36 |
There are 33 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986472.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024