ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.981C>T (p.Ala327=)

gnomAD frequency: 0.00004  dbSNP: rs368425803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398542 SCV000480741 uncertain significance Chorea-acanthocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001473622 SCV001677776 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing

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