ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)

dbSNP: rs143259810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285403 SCV000480799 uncertain significance Chorea-acanthocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000866529 SCV001007640 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000285403 SCV001457846 likely benign Chorea-acanthocytosis 2020-06-07 no assertion criteria provided clinical testing

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