ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q31.1(chr4:140024115-140457430)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 | |||
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
371 | 415 | |
ELF2 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
MGARP | - | - |
GRCh38 GRCh37 |
5 | 48 | |
NDUFC1 | - | - |
GRCh38 GRCh37 |
8 | 53 | |
RAB33B | - | - |
GRCh38 GRCh37 |
113 | 169 | |
SETD7 | - | - |
GRCh38 GRCh37 |
8 | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 12, 2018 | RCV001005601.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022