ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.11(chr16:14927857-15375547)x3
Germline
Classification
(1)
Likely pathogenic
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 | |||
NTAN1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 198 | |
NOMO1 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 209 | |
NPIPA1 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 177 | |
PDXDC1 | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 275 | |
RRN3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 219 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 21, 2021 | RCV001006777.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023