ClinVar Miner

Submissions for variant NM_001099402.2(CCNK):c.1363G>A (p.Gly455Arg)

gnomAD frequency: 0.00001  dbSNP: rs1217663367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227727 SCV002506822 uncertain significance Intellectual developmental disorder with hypertelorism and distinctive facies 2021-06-21 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV002227727 SCV003930427 not provided Intellectual developmental disorder with hypertelorism and distinctive facies no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 06-21-2021 by New York Genome Center. 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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