ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.824+12C>T

gnomAD frequency: 0.00003  dbSNP: rs587678724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358523 SCV000478310 uncertain significance Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523746 SCV002929313 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing

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