ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) (rs869312826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center RCV000210260 SCV000266340 pathogenic Global developmental delay; Seizures; Intellectual disability; Generalized tonic-clonic seizures; Muscular hypotonia 2016-02-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755057 SCV000882873 likely pathogenic Seizures; hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research

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