ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) (rs386833777)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049742 SCV000082149 probable-pathogenic Imerslund-Gräsbeck syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV001095373 SCV001250981 pathogenic Imerslund-Gräsbeck syndrome 1 2020-05-18 no assertion criteria provided literature only

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