ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)

gnomAD frequency: 0.40290  dbSNP: rs3737289
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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 RCV000393264 SCV000480821 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.
Athena Diagnostics Inc RCV000714184 SCV000844871 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000714184 SCV001716694 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000393264 SCV001762624 benign Chorea-acanthocytosis 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000714184 SCV001835125 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000393264 SCV000734717 benign Chorea-acanthocytosis no assertion criteria provided clinical testing
Natera, Inc. RCV000393264 SCV001452563 benign Chorea-acanthocytosis 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580005 SCV001809324 benign not specified no assertion criteria provided clinical testing

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