ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003233281 SCV004234697 uncertain significance Intellectual disability, autosomal recessive 58 2023-09-08 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV003233281 SCV003931234 not provided Intellectual disability, autosomal recessive 58 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 01-07-2019 by PerkinElmer Genomics. 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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