ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.31(chr12:123708136-123981696)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 | |||
CDK2AP1 | - | - |
GRCh38 GRCh37 |
6 | 37 | |
KMT5A | - | - |
GRCh38 GRCh37 |
4 | 36 | |
MTRFR | - | - |
GRCh38 GRCh37 |
165 | 202 | |
RILPL1 | - | - |
GRCh38 GRCh37 |
14 | 53 | |
RILPL2 | - | - |
GRCh38 GRCh37 |
13 | 45 | |
SBNO1 | - | - |
GRCh38 GRCh37 |
54 | 86 | |
SNRNP35 | - | - |
GRCh38 GRCh37 |
20 | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 6, 2017 | RCV000683416.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022