ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9189+2495C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003613033 SCV004562629 uncertain significance Chorea-acanthocytosis 2023-09-12 criteria provided, single submitter clinical testing Due to limited information, including a lack of clinical and/or functional data and an uninformative population frequency, the clinical significance of this variant is uncertain at this time.

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