ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1
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 | |||
GRHL3 | - | - |
GRCh38 GRCh37 |
151 | 182 | |
NCMAP | - | - | - |
GRCh38 GRCh37 |
5 | 12 |
NIPAL3 | - | - |
GRCh38 GRCh37 |
36 | 48 | |
RCAN3 | - | - |
GRCh38 GRCh37 |
6 | 14 | |
SRRM1 | - | - |
GRCh38 GRCh37 |
48 | 55 | |
STPG1 | - | - |
GRCh38 GRCh37 |
15 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2023 | RCV003483094.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024