ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1165T>C (p.Leu389=)

gnomAD frequency: 0.00001  dbSNP: rs547171069
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 RCV000868799 SCV001010171 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830905 SCV002078227 likely benign Chorea-acanthocytosis 2020-03-27 no assertion criteria provided clinical testing

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