ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2496A>T (p.Pro832=)

gnomAD frequency: 0.00013  dbSNP: rs148754839
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000898581 SCV001042793 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000898581 SCV001977759 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000898581 SCV001980442 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001825809 SCV002078239 likely benign Chorea-acanthocytosis 2020-02-15 no assertion criteria provided clinical testing

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