ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1212G>A (p.Thr404=)

gnomAD frequency: 0.00004  dbSNP: rs367698917
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 RCV001510525 SCV001717579 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836427 SCV002078228 benign Chorea-acanthocytosis 2020-07-22 no assertion criteria provided clinical testing

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