Submissions for variant NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)

gnomAD frequency: 0.00944  dbSNP: rs41289969

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV004997248	SCV000844864	benign	not specified	2024-02-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000714177	SCV001001136	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001165690	SCV001327920	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000714177	SCV001858141	benign	not provided	2020-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000714177	SCV002545686	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	VPS13A: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000714177	SCV005226526	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001165690	SCV002078266	benign	Chorea-acanthocytosis	2019-11-27	no assertion criteria provided	clinical testing