ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.68_69TC[1] (p.Ser24fs) (rs1555902247)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) RCV000508685 SCV000301482 pathogenic Rubinstein-Taybi syndrome 2 2016-09-20 criteria provided, single submitter research Leads to Rubinstein-Taybi syndrome

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