ClinVar Miner

Submissions for variant NM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs)

dbSNP: rs2145499914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of genome editing, Research Centre for Medical Genetics RCV002275374 SCV002559910 likely pathogenic Syndromic intellectual disability 2022-07-14 criteria provided, single submitter clinical testing PVS1, PM2

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