ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs)

dbSNP: rs2059211409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001289467 SCV001477301 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2020-10-13 criteria provided, single submitter clinical testing

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