ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.301G>A (p.Gly101Ser)

dbSNP: rs762557708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758418 SCV001995334 uncertain significance not provided 2019-09-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001837039 SCV002097899 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2021-02-09 criteria provided, single submitter clinical testing

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