ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.532T>C (p.Leu178=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002876064 SCV003232413 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434515 SCV004147977 benign not provided 2022-10-01 criteria provided, single submitter clinical testing EP300: BS1, BS2

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