ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.2181_2182del (p.Tyr728fs)

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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 RCV003990628 SCV004807457 pathogenic Trichohepatoenteric syndrome 1 2024-03-26 criteria provided, single submitter clinical testing

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