ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter)

dbSNP: rs878853055
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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 Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224684 SCV000281132 likely pathogenic not provided 2016-04-22 criteria provided, single submitter clinical testing
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV001814124 SCV002060985 pathogenic Intellectual disability, X-linked 93 no assertion criteria provided case-control

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