ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_75914933)_(76029908_?)del
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 | |||
HSPB1 | - | - |
GRCh38 GRCh37 |
368 | 408 | |
SRRM3 | - | - | - |
GRCh38 GRCh37 |
39 | 80 |
SSC4D | - | - |
GRCh38 GRCh37 |
7 | 60 | |
YWHAG | - | - |
GRCh38 GRCh37 |
181 | 220 | |
ZP3 | - | - |
GRCh38 GRCh37 |
58 | 104 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 9, 2021 | RCV001031816.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 24, 2022