ClinVar Genomic variation as it relates to human health
NM_001170795.4(ATRAID):c.-38C>T
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 | |||
ATRAID | - | - |
GRCh38 GRCh37 |
16 | 47 | |
LOC129933365 | - | - | - | GRCh38 | - | 16 |
SLC5A6 | - | - |
GRCh38 GRCh37 |
79 | 109 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 27, 2022 | RCV004218614.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024