ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.283+20del

dbSNP: rs199782752
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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 RCV000341718 SCV000480737 likely benign Chorea-acanthocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002058810 SCV002404217 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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