ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) (rs869312822)

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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 RCV000210277 SCV000266333 pathogenic Global developmental delay; Seizures; Failure to thrive; Focal seizures with impairment of consciousness or awareness; Strabismus; Limb hypertonia 2016-02-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755058 SCV000882874 likely pathogenic Seizures; hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research

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