ClinVar Miner

Submissions for variant NM_002139.4(RBMX):c.389-8T>C

gnomAD frequency: 0.00011  dbSNP: rs181515589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625831 SCV000746393 uncertain significance Syndromic X-linked intellectual disability Shashi type 2020-05-03 criteria provided, single submitter clinical testing

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