ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7013A>G (p.His2338Arg)

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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 RCV003060137 SCV003448182 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003435857 SCV004153147 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing EP300: BS2

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