ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)

dbSNP: rs28931588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002221234 SCV002498594 pathogenic Juvenile nasopharyngeal angiofibroma 2021-07-30 criteria provided, single submitter clinical testing This variant was identified in 23% of reads, consistent with somatic origin. To our knowledge, this variant has not previously been reported in juvenile nasopharyngeal angiofibroma (JNA), but this is an oncogenic variant found in multiple tumor types (COSMIC and cBioPortal Databases).

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