ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp)

dbSNP: rs1559477241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000681631 SCV000809074 likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome 2018-06-04 criteria provided, single submitter clinical testing

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