ClinVar Genomic variation as it relates to human health
NM_002588.4(PCDHGC3):c.2083C>A (p.Leu695Ile)
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 | |||
PCDHGA8 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
- | 639 | |
PCDHG@ | - | - | GRCh38 | - | 1318 | |
PCDHGA1 | - | - |
GRCh38 GRCh37 |
- | 1331 | |
PCDHGA10 | - | - |
GRCh38 GRCh37 |
- | 392 | |
PCDHGA11 | - | - |
GRCh38 GRCh37 |
- | 292 | |
PCDHGA12 | - | - |
GRCh38 GRCh37 |
- | 233 | |
PCDHGA2 | - | - |
GRCh38 GRCh37 |
- | 1275 | |
PCDHGA3 | - | - |
GRCh38 GRCh37 |
- | 1210 | |
PCDHGA4 | - | - |
GRCh38 GRCh37 |
- | 1081 | |
PCDHGA5 | - | - |
GRCh38 GRCh37 |
- | 969 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 30, 2024 | RCV004500539.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024