ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6413C>T (p.Ala2138Val)

gnomAD frequency: 0.00003  dbSNP: rs587778258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815235 SCV002064110 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Invitae RCV002515847 SCV003472643 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894961 SCV004714551 likely benign EP300-related condition 2021-09-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120722 SCV000084885 not provided not specified 2013-09-19 no assertion provided reference population

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