ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His)

gnomAD frequency: 0.01611  dbSNP: rs36220239
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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 RCV000246702 SCV000315858 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375633 SCV000478319 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972467 SCV001120180 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000375633 SCV001137944 benign Upshaw-Schulman syndrome 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972467 SCV005226046 likely benign not provided criteria provided, single submitter not provided

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