ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del)

dbSNP: rs1554797078
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505689 SCV000599815 likely pathogenic Upshaw-Schulman syndrome 2017-04-20 no assertion criteria provided clinical testing

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