ClinVar Genomic variation as it relates to human health
NM_014698.3(TMEM63A):c.478G>A (p.Val160Ile)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 | |||
TMEM63A | - | - |
GRCh38 GRCh37 |
89 | 150 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 14, 2021 | RCV002945472.2 | |
Likely benign (1) |
|
Feb 1, 2024 | RCV003420479.4 | |
Likely benign (1) |
|
May 27, 2021 | RCV003973741.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024