ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2964+5G>A

gnomAD frequency: 0.00005  dbSNP: rs139516538
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868692 SCV001010054 likely benign not provided 2024-09-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001167160 SCV001329618 benign Chorea-acanthocytosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000868692 SCV005401434 uncertain significance not provided 2024-05-18 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 21145924, 31545336)
Natera, Inc. RCV001167160 SCV002078245 likely benign Chorea-acanthocytosis 2020-01-15 no assertion criteria provided clinical testing

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