ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) (rs752746786)

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Total submissions: 4
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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 RCV000210280 SCV000266336 pathogenic Global developmental delay; Seizures; Failure to thrive; Feeding difficulties; Focal seizures with impairment of consciousness or awareness; Growth delay; Cortical visual impairment; Limb hypertonia; Infantile muscular hypotonia; Multifocal epileptiform discharges; Muscular hypotonia 2016-02-10 no assertion criteria provided research
OMIM RCV000225195 SCV000282062 pathogenic Mental retardation, autosomal dominant 42 2016-08-08 no assertion criteria provided literature only
OMIM RCV000225283 SCV000282063 pathogenic Acute lymphoid leukemia 2016-08-08 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics,University of Washington RCV000755054 SCV000882870 likely pathogenic Seizures; hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research

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