ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3400+46G>A

gnomAD frequency: 0.00003  dbSNP: rs782472825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507774 SCV001713525 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040298 SCV005678083 uncertain significance Upshaw-Schulman syndrome 2024-05-20 criteria provided, single submitter clinical testing

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