ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln)

dbSNP: rs1163583945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000993681 SCV001146835 uncertain significance Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-10-02 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Neurodevelopmental disorder with or without variable brain abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3.
Institute of Human Genetics, University of Leipzig Medical Center RCV000993681 SCV001335370 likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-02-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
GenomeConnect - Brain Gene Registry RCV003313162 SCV004012837 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-05-2017 by Lab 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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