Submissions for variant NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)

gnomAD frequency: 0.00817  dbSNP: rs117983287

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000860854	SCV001001020	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000860854	SCV001146639	benign	not provided	2018-10-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000612749	SCV001332593	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	RCV000860854	SCV001895888	benign	not provided	2020-09-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27639821)
CeGaT Center for Human Genetics Tuebingen	RCV000860854	SCV002545687	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	VPS13A: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003917976	SCV004736285	benign	VPS13A-related condition	2019-05-03	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612749	SCV000734719	likely benign	Chorea-acanthocytosis		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000612749	SCV001452565	benign	Chorea-acanthocytosis	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579767	SCV001808449	benign	not specified		no assertion criteria provided	clinical testing