ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1423dup (p.Tyr475fs)

dbSNP: rs2145715677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001787311 SCV002029204 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2021-10-22 no assertion criteria provided clinical testing

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