ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.2(chr19:39549605-39732047)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 | |||
ACP7 | - | - |
GRCh38 GRCh37 |
3 | 14 | |
NCCRP1 | - | - |
GRCh38 GRCh37 |
17 | 28 | |
PAK4 | - | - |
GRCh38 GRCh37 |
41 | 52 | |
SYCN | - | - |
GRCh38 GRCh37 |
10 | 21 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 16, 2023 | RCV003483354.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024