ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.3(chr17:78230693-79048694)x4
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 | |||
BAIAP2 | - | - |
GRCh38 GRCh37 |
52 | 73 | |
CHMP6 | - | - |
GRCh38 GRCh37 |
19 | 40 | |
ENDOV | - | - |
GRCh38 GRCh37 |
30 | 56 | |
NPTX1 | - | - |
GRCh38 GRCh37 |
38 | 60 | |
RNF213 | - | - |
GRCh38 GRCh37 |
432 | 744 | |
RPTOR | - | - |
GRCh38 GRCh37 |
49 | 75 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 30, 2021 | RCV002474886.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022