ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3935G>A (p.Arg1312Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004556902 SCV005045550 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-08-16 criteria provided, single submitter clinical testing ACMG Criteria: PM1, PM2_SUP, PP3, BS2

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