ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)

gnomAD frequency: 0.00013  dbSNP: rs371138709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860774 SCV001000922 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001276372 SCV003820416 uncertain significance Chorea-acanthocytosis 2019-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276372 SCV001462584 likely benign Chorea-acanthocytosis 2020-09-16 no assertion criteria provided clinical testing

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