ClinVar Miner

Submissions for variant NM_139025.4(ADAMTS13):c.577C>T (p.Arg193Trp) (rs281875287)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenePathDx,Causeway Health Care Private Ltd RCV000516791 SCV000616341 likely pathogenic Upshaw-Schulman syndrome 2017-07-07 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059775 SCV000091345 not provided not provided no assertion provided not provided

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