ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys)

gnomAD frequency: 0.01123  dbSNP: rs36221451
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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 RCV000249156 SCV000315867 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312426 SCV000478332 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972469 SCV001120182 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972469 SCV004699718 benign not provided 2024-02-01 criteria provided, single submitter clinical testing ADAMTS13: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000972469 SCV005226051 likely benign not provided criteria provided, single submitter not provided

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