ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004545919 SCV005040898 likely pathogenic Upshaw-Schulman syndrome 2022-02-09 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2_SUP
Mayo Clinic Laboratories, Mayo Clinic RCV004791691 SCV005413929 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing PM2, PVS1

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