ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=)

gnomAD frequency: 0.00001  dbSNP: rs767739134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869069 SCV001010465 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908252 SCV004723350 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. RCV001274087 SCV001457831 uncertain significance Chorea-acanthocytosis 2020-02-13 no assertion criteria provided clinical testing

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