ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q11.2(chr5:54635880-55019572)x3
Germline
Classification
(1)
Likely benign
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 | |||
MTREX | - | - |
GRCh38 GRCh37 |
43 | 69 | |
PLPP1 | - | - |
GRCh38 GRCh37 |
8 | 30 | |
SLC38A9 | - | - |
GRCh38 GRCh37 |
27 | 42 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 8, 2017 | RCV000512842.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022