ClinVar Genomic variation as it relates to human health
NM_033337.3(CAV3):c.417C>T (p.Val139=)
Germline
Classification
(12)
Conflicting classifications of pathogenicity
Uncertain significance(3); Benign(4); Likely benign(3)
Uncertain significance(3); Benign(4); Likely benign(3)
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 | |||
CAV3 | - | - |
GRCh38 GRCh37 |
102 | 444 | |
OXTR | - | - |
GRCh38 GRCh37 |
34 | 375 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign/Likely benign (2) |
|
Jan 26, 2018 | RCV000029456.6 | |
Likely benign (1) |
|
Jan 21, 2024 | RCV000226274.14 | |
Conflicting interpretations of pathogenicity (3) |
|
Jul 2, 2018 | RCV000379233.14 | |
Benign (1) |
|
Jan 13, 2018 | RCV000349095.6 | |
Uncertain significance (1) |
|
Jun 14, 2016 | RCV000399401.6 | |
Uncertain significance (1) |
|
Jun 14, 2016 | RCV000402310.6 | |
Likely benign (1) |
|
Jun 28, 2016 | RCV000620134.4 | |
Benign (1) |
|
- | RCV001699183.3 | |
CAV3-related disorder
|
Benign (1) |
|
Oct 22, 2019 | RCV003914865.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs147250678 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 27, 2024