ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.3629T>C (p.Leu1210Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004527544 SCV005038903 uncertain significance Neuropathy, congenital hypomyelinating, 3 2024-03-14 criteria provided, single submitter clinical testing

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