ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=)

dbSNP: rs1057515657
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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 RCV000281748 SCV000480796 uncertain significance Chorea-acanthocytosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523815 SCV003284512 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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