ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2(chr19:8680064-9034843)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 | |||
ACTL9 | - | - |
GRCh38 GRCh37 |
39 | 48 | |
MBD3L1 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 21 | |
MUC16 | - | - |
GRCh38 GRCh38 GRCh37 |
542 | 560 | |
OR2Z1 | - | - | - |
GRCh38 GRCh37 |
33 | 42 |
ZNF558 | - | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 25, 2022 | RCV003485191.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024