ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)

dbSNP: rs1601613391
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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 RCV001027431 SCV001189988 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2019-11-05 no assertion criteria provided clinical testing

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