ClinVar Miner

Submissions for variant NM_001039396.2(MPEG1):c.1078T>A (p.Phe360Ile)

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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 RCV003989347 SCV004808101 uncertain significance Immunodeficiency 77 2024-03-29 criteria provided, single submitter clinical testing

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