ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) (rs869312824)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252684 SCV001163827 likely pathogenic Microcephaly criteria provided, single submitter research
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center RCV000210270 SCV000266338 pathogenic Global developmental delay; Expressive language delay; Seizures; Failure to thrive; Feeding difficulties; Growth delay; Nystagmus; Cortical visual impairment; Strabismus; Intellectual disability; Limb hypertonia; Inability to walk; Multifocal epileptiform discharges; Muscular hypotonia 2016-02-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755060 SCV000882876 likely pathogenic Seizures; hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research
GeneReviews RCV001290214 SCV001478309 pathogenic Mental retardation, autosomal dominant 42 2020-02-26 no assertion criteria provided literature only

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