ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.1351dup (p.Val451fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223479 SCV003918923 pathogenic Severe intellectual disability-progressive spastic diplegia syndrome 2023-04-20 criteria provided, single submitter research

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