ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p11.23-11.22(chr12:27698864-28039441)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 | |||
KLHL42 | - | - |
GRCh38 GRCh37 |
13 | 44 | |
MANSC4 | - | - | - |
GRCh38 GRCh37 |
21 | 52 |
MRPS35 | - | - |
GRCh38 GRCh37 |
22 | 61 | |
PPFIBP1 | - | - |
GRCh38 GRCh37 |
82 | 132 | |
REP15 | - | - |
GRCh38 GRCh37 |
15 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 12, 2020 | RCV001827929.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022