ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.963G>A (p.Val321=)

gnomAD frequency: 0.00005  dbSNP: rs184828562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862179 SCV001002645 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165491 SCV001327690 uncertain significance 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001165491 SCV002078223 benign Chorea-acanthocytosis 2020-04-14 no assertion criteria provided clinical testing

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