ClinVar Miner

Submissions for variant NM_001958.5(EEF1A2):c.842C>T (p.Ala281Val)

gnomAD frequency: 0.00001  dbSNP: rs1166766963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056723 SCV001221185 likely benign Developmental and epileptic encephalopathy, 33 2023-05-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171958 SCV001334874 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV001171958 SCV004804581 not provided not provided no assertion provided phenotyping only Variant classified as Likely benign and reported on 03-09-2021 by Invitae. 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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