ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=)

gnomAD frequency: 0.05724  dbSNP: rs34054981
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251872 SCV000315885 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297875 SCV000478306 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001698663 SCV001916830 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001698663 SCV002373143 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698663 SCV005226040 likely benign not provided criteria provided, single submitter not provided

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