ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=)

gnomAD frequency: 0.00001  dbSNP: rs763126524
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
Invitae RCV000864772 SCV001005626 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276366 SCV001462578 likely benign Chorea-acanthocytosis 2020-09-16 no assertion criteria provided clinical testing

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