ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val)

gnomAD frequency: 0.00011  dbSNP: rs185663133
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 RCV000866606 SCV001007726 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278782 SCV001465814 benign Chorea-acanthocytosis 2020-09-29 no assertion criteria provided clinical testing

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