ClinVar Miner

Submissions for variant NM_004738.5(VAPB):c.528G>A (p.Leu176=)

gnomAD frequency: 0.00022  dbSNP: rs199921117
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002254581 SCV001017693 benign Amyotrophic lateral sclerosis type 8; Adult-onset proximal spinal muscular atrophy, autosomal dominant 2024-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432844 SCV004150694 benign not provided 2022-07-01 criteria provided, single submitter clinical testing VAPB: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003908318 SCV004719111 benign VAPB-related disorder 2024-02-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.