ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4124G>T (p.Gly1375Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV005232569 SCV005873533 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-03-04 criteria provided, single submitter clinical testing ACMG: PS2_Supporting, PM2_Supporting, PP3_Strong

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