ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.241G>T (p.Gly81Cys)

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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 RCV003990097 SCV004806393 uncertain significance Combined immunodeficiency due to STIM1 deficiency criteria provided, single submitter clinical testing

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