ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.6130C>T (p.Gln2044Ter) (rs1057518789)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760803 SCV000890698 pathogenic not provided 2018-10-29 criteria provided, single submitter clinical testing The Q2082X variant in the CREBBP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Q2082X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q2082X as a pathogenic variant
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414795 SCV000492586 likely pathogenic Global developmental delay; Scoliosis 2016-04-18 no assertion criteria provided clinical testing

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