ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.8658A>C (p.Pro2886=)

gnomAD frequency: 0.78408  dbSNP: rs28551666
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001679131 SCV001902708 benign not provided 2018-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001679131 SCV002332954 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243411 SCV002514505 benign Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001679131 SCV005282511 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975962 SCV004797853 benign VPS13D-related disorder 2019-07-08 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.