ClinVar Genomic variation as it relates to human health
NM_175607.3(CNTN4):c.2525G>C (p.Arg842Thr)
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 | |||
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
273 | 507 | |
CNTN4-AS1 | - | - | - | GRCh38 | - | 94 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CNTN4-related disorder
|
Uncertain significance (1) |
|
May 9, 2023 | RCV003408349.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024