ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.11(chrX:23080577-23874609)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 | |||
PTCHD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
249 | 406 | |
ACOT9 | - | - |
GRCh38 GRCh37 |
21 | 176 | |
APOO | - | - |
GRCh38 GRCh37 |
12 | 164 | |
PRDX4 | - | - |
GRCh38 GRCh37 |
14 | 169 | |
SAT1 | - | - |
GRCh38 GRCh37 |
2 | 157 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 28, 2023 | RCV003485280.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024