ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.606del (p.Pro203fs)

dbSNP: rs1555053981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000505783 SCV004040950 pathogenic Blepharocheilodontic syndrome 2 2023-07-04 criteria provided, single submitter clinical testing
OMIM RCV000505783 SCV000599990 pathogenic Blepharocheilodontic syndrome 2 2017-09-20 no assertion criteria provided literature only

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