ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)

dbSNP: rs1591672193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000985038 SCV001437683 likely pathogenic Blepharocheilodontic syndrome 2 criteria provided, single submitter clinical testing PVS1, PM2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985038 SCV001132974 pathogenic Blepharocheilodontic syndrome 2 2019-08-25 no assertion criteria provided clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001034557 SCV001197922 likely pathogenic Cleft lip with or without cleft palate no assertion criteria provided research

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