ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q21.1(chr5:101620402-102584810)x3
Germline
Classification
(1)
Likely benign
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 | |||
GIN1 | - | - | - |
GRCh38 GRCh37 |
35 | 67 |
PAM | - | - |
GRCh38 GRCh37 |
42 | 81 | |
PPIP5K2 | - | - |
GRCh38 GRCh37 |
76 | 110 | |
SLCO4C1 | - | - |
GRCh38 GRCh37 |
37 | 71 | |
SLCO6A1 | - | - |
GRCh38 GRCh37 |
45 | 79 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 4, 2018 | RCV001005708.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022