ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=)

gnomAD frequency: 0.00845  dbSNP: rs36222899
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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 RCV000247404 SCV000315881 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268615 SCV000478354 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972470 SCV001120183 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972470 SCV005226062 likely benign not provided criteria provided, single submitter not provided

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