ClinVar Miner

Submissions for variant NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp)

dbSNP: rs1561846159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV001291381 SCV001479855 likely pathogenic Autism spectrum disorder no assertion criteria provided research
OMIM RCV002260664 SCV002540563 pathogenic Intellectual developmental disorder, autosomal dominant 67 2022-06-29 no assertion criteria provided literature only
GenomeConnect - Brain Gene Registry RCV000709813 SCV003931161 not provided Non-syndromic intellectual disability no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 03-27-2017 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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