ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)

gnomAD frequency: 0.00001  dbSNP: rs750046579
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869537 SCV001010971 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825746 SCV002078229 likely benign Chorea-acanthocytosis 2021-03-19 no assertion criteria provided clinical testing

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