ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6437C>A (p.Pro2146His)

gnomAD frequency: 0.00002  dbSNP: rs745528077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661969 SCV000784300 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2018-03-05 criteria provided, single submitter clinical testing

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