ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1787-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005045978 SCV005677992 likely pathogenic Upshaw-Schulman syndrome 2024-02-02 criteria provided, single submitter clinical testing

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