ClinVar Miner

Submissions for variant NM_001379291.1(BRD4):c.883A>C (p.Thr295Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV003985032 SCV004801364 uncertain significance Mental disorder 2024-03-03 criteria provided, single submitter curation Patient P11 in PMID: 35470444; The following ACMG tags were applied: Absent from controls (or at extremely low frequency if recessive) in gnomAD (PM2).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003449005 SCV005382628 uncertain significance Cornelia de Lange syndrome 6 2024-10-29 criteria provided, single submitter clinical testing
OMIM RCV003449005 SCV004176792 pathogenic Cornelia de Lange syndrome 6 2024-01-25 no assertion criteria provided literature only

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