ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=)

gnomAD frequency: 0.01608  dbSNP: rs36219562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248070 SCV000315887 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364006 SCV000478313 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972466 SCV001120179 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972466 SCV005226043 likely benign not provided criteria provided, single submitter not provided

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