ClinVar Genomic variation as it relates to human health
NM_000278.5(PAX2):c.212+1G>T
Germline
Classification
(2)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
PAX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
459 | 480 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 12, 2022 | RCV002999881.2 | |
Pathogenic (1) |
|
Dec 1, 2023 | RCV004577569.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 30, 2024