ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.139C>T (p.His47Tyr)

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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 RCV004764585 SCV005374121 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2024-09-22 criteria provided, single submitter clinical testing

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