ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1824A>G (p.Pro608=)

gnomAD frequency: 0.00002  dbSNP: rs750307161
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 RCV000864514 SCV001005324 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271519 SCV001452750 uncertain significance Chorea-acanthocytosis 2020-02-13 no assertion criteria provided clinical testing

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