ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe)

gnomAD frequency: 0.00003  dbSNP: rs775782206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003389857 SCV004132150 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001034561 SCV001197926 likely pathogenic Cleft lip with or without cleft palate no assertion criteria provided research

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