ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=)

gnomAD frequency: 0.03155  dbSNP: rs28641026
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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 RCV000253712 SCV000315871 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378938 SCV000478339 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711742 SCV001944708 benign not provided 2020-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22768050)
Labcorp Genetics (formerly Invitae), Labcorp RCV001711742 SCV002488116 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711742 SCV005226056 likely benign not provided criteria provided, single submitter not provided

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