ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2037+8C>A

gnomAD frequency: 0.00417  dbSNP: rs41289961
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287052 SCV000480753 likely benign Chorea-acanthocytosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000860837 SCV001001002 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000860837 SCV001155655 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing VPS13A: BP4, BS2
GeneDx RCV000860837 SCV001783926 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000287052 SCV002799942 likely benign Chorea-acanthocytosis 2021-10-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000287052 SCV000734706 likely benign Chorea-acanthocytosis no assertion criteria provided clinical testing
Natera, Inc. RCV000287052 SCV001452751 benign Chorea-acanthocytosis 2019-11-11 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579601 SCV001807858 benign not specified no assertion criteria provided clinical testing

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.