ClinVar Miner

Submissions for variant NM_007214.5(SEC63):c.452+1G>A (rs869312977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788737 SCV000927959 likely pathogenic not provided 2018-09-27 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center RCV000210666 SCV000266499 pathogenic Polycystic liver disease 1 no assertion criteria provided research

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