ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) (rs1114167306)

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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)	RCV000490787	SCV000297728	pathogenic	Rubinstein-Taybi syndrome 2	2016-07-01	criteria provided, single submitter	research

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