ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter)

dbSNP: rs1601319538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001003396 SCV001161683 pathogenic CEBALID syndrome 2020-02-14 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001258024 SCV001434838 likely pathogenic MN1 C-terminal truncation (MCTT) syndrome no assertion criteria provided research

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