ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.*592dup

dbSNP: rs60283061
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000293084 SCV000438907 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694681 SCV005194492 uncertain significance not provided criteria provided, single submitter not provided

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