ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)

gnomAD frequency: 0.00002  dbSNP: rs370401336
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343290 SCV000480800 uncertain significance Chorea-acanthocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001416506 SCV001618688 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001416506 SCV001747595 uncertain significance not provided 2021-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957876 SCV004770606 likely benign VPS13A-related condition 2022-05-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000343290 SCV002078275 likely benign Chorea-acanthocytosis 2019-11-11 no assertion criteria provided clinical testing

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