ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q12.1(chr5:60111731-60809784)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ELOVL7 | - | - |
GRCh38 GRCh37 |
20 | 50 | |
ERCC8 | - | - |
GRCh38 GRCh37 |
492 | 611 | |
NDUFAF2 | - | - |
GRCh38 GRCh37 |
128 | 185 | |
SMIM15 | - | - | - |
GRCh38 GRCh37 |
4 | 27 |
ZSWIM6 | - | - |
GRCh38 GRCh37 |
799 | 821 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986563.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024