ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1733T>C (p.Leu578Pro)

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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 RCV003990576 SCV004807349 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2024-03-26 criteria provided, single submitter clinical testing

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