ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)

dbSNP: rs1775982467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330696 SCV001522452 likely pathogenic Intellectual disability, autosomal recessive 18 2019-01-16 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GenomeConnect - Brain Gene Registry RCV001330696 SCV002030787 not provided Intellectual disability, autosomal recessive 18 no assertion provided phenotyping only Variant classified as likely pathogenic and reported on 01-16-2019 by Baylor Genetics. 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.

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