ClinVar Miner

Submissions for variant NM_016216.4(DBR1):c.200A>G (p.Tyr67Cys)

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Total submissions: 2
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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 RCV003989835 SCV004806297 uncertain significance Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV003328500 SCV004035125 pathogenic Xerosis and growth failure with immune and pulmonary dysfunction syndrome 2023-09-14 no assertion criteria provided literature only

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