Submissions for variant NM_033305.3(VPS13A):c.101-7T>C

gnomAD frequency: 0.00338  dbSNP: rs190684534

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861939	SCV001002360	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168739	SCV001331350	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000861939	SCV001795019	likely benign	not provided	2021-07-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000861939	SCV004157837	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	VPS13A: BP4, BS1, BS2
Natera, Inc.	RCV001168739	SCV001462570	benign	Chorea-acanthocytosis	2020-09-16	no assertion criteria provided	clinical testing