ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.197AGAGGC[5] (p.Arg73_Arg74insGlnArg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004809124 SCV005432125 likely pathogenic not provided 2024-10-01 criteria provided, single submitter clinical testing ADAMTS13: PM2, PM3, PM4
Fulgent Genetics, Fulgent Genetics RCV005040801 SCV005681444 uncertain significance Upshaw-Schulman syndrome 2024-01-06 criteria provided, single submitter clinical testing

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