ClinVar Miner

Submissions for variant NM_001039396.2(MPEG1):c.623G>A (p.Ser208Asn)

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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 RCV003990541 SCV004807280 uncertain significance Immunodeficiency 77 2024-03-26 criteria provided, single submitter clinical testing

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