Submissions for variant NM_033305.3(VPS13A):c.9400-15A>C

gnomAD frequency: 0.00615  dbSNP: rs117688596

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000368685	SCV000480826	benign	Chorea-acanthocytosis	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001556534	SCV001778135	likely benign	not provided	2020-06-30	criteria provided, single submitter	clinical testing
Invitae	RCV001556534	SCV002388096	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000368685	SCV002794616	likely benign	Chorea-acanthocytosis	2021-10-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000368685	SCV000734720	likely benign	Chorea-acanthocytosis		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579612	SCV001807891	benign	not specified		no assertion criteria provided	clinical testing