ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His)

gnomAD frequency: 0.02177  dbSNP: rs36090624
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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 RCV000248888 SCV000315864 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397358 SCV000478328 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000956760 SCV001103544 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000956760 SCV001960376 benign not provided 2020-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25242241)
Breakthrough Genomics, Breakthrough Genomics RCV000956760 SCV005226049 likely benign not provided criteria provided, single submitter not provided

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