ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)

gnomAD frequency: 0.18911  dbSNP: rs7025532
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000373807 SCV000480795 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.
Athena Diagnostics Inc RCV000714178 SCV000844865 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000714178 SCV001716693 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000373807 SCV001762950 benign Chorea-acanthocytosis 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000714178 SCV001839340 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000373807 SCV000734711 benign Chorea-acanthocytosis no assertion criteria provided clinical testing
Natera, Inc. RCV000373807 SCV001452556 benign Chorea-acanthocytosis 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579921 SCV001809035 benign not specified no assertion criteria provided clinical testing

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