ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)

dbSNP: rs1555057581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000505753 SCV000599989 pathogenic Blepharocheilodontic syndrome 2 2017-09-20 no assertion criteria provided literature only

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