ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.*926AC[20]

dbSNP: rs59721178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337034 SCV000438928 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694682 SCV005194493 uncertain significance not provided criteria provided, single submitter not provided

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