ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1283-8T>C

gnomAD frequency: 0.01914  dbSNP: rs76827562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179383 SCV000231623 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Invitae RCV002517750 SCV001021417 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001657959 SCV001881475 benign not provided 2018-09-26 criteria provided, single submitter clinical testing

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