ClinVar Miner

Submissions for variant GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000512510 SCV000584428 likely benign See cases 2016-02-01 no assertion criteria provided clinical testing
GenomeConnect - Brain Gene Registry RCV001787688 SCV002030762 not provided Intellectual disability, X-linked 58 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-17-2016 by Lab or GTR ID 505219. 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 John Constantino MD PhD 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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