ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) (rs1464734494)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV001027435 SCV001189993 likely pathogenic Rubinstein-Taybi syndrome 2 2019-11-05 no assertion criteria provided clinical testing

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