ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.*1083_*1085del

dbSNP: rs561433394
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367957 SCV000438937 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations 2016-06-14 criteria provided, single submitter clinical testing

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