ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) (rs374417889)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV001029890 SCV001192681 likely pathogenic Imerslund-Gräsbeck syndrome 2019-03-19 no assertion criteria provided clinical testing

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