ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.7290-10A>G

gnomAD frequency: 0.00001  dbSNP: rs777376932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869070 SCV001010466 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908253 SCV004726213 likely benign VPS13A-related disorder 2019-06-17 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. RCV001274598 SCV001458882 uncertain significance Chorea-acanthocytosis 2020-02-13 no assertion criteria provided clinical testing

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