ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala)

gnomAD frequency: 0.05902  dbSNP: rs28647808
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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 RCV000244738 SCV000315863 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345892 SCV000478327 likely benign Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001651270 SCV001869826 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16160007, 26139087, 26284228, 28939980, 23733198, 32531546, 23847193, 22768050, 25934476, 12614216)
Labcorp Genetics (formerly Invitae), Labcorp RCV001651270 SCV002405479 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651270 SCV005226048 likely benign not provided criteria provided, single submitter not provided

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