ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5519T>G (p.Val1840Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289411 SCV002580947 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-07-12 criteria provided, single submitter clinical testing

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