ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV003129572 SCV003804981 likely pathogenic Chorea-acanthocytosis 2023-03-01 criteria provided, single submitter clinical testing PVS1, PM2

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