ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.3647C>A (p.Pro1216His) (rs143981573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735383 SCV000854538 uncertain significance Protein-losing enteropathy; Short stature; Hydronephrosis; Cataract; Eczema; Immunodeficiency; Intrauterine growth retardation; Neutropenia; Urachal cyst; Thrombocytopenia criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336876 SCV000430020 uncertain significance Xanthinuria 2016-06-14 criteria provided, single submitter clinical testing

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