ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3555C>A (p.Cys1185Ter)

dbSNP: rs1933308051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, Medical University of Vienna RCV001645004 SCV001519069 pathogenic CEBALID syndrome 2021-03-10 no assertion criteria provided clinical testing

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