ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4618-18C>T

gnomAD frequency: 0.25729  dbSNP: rs2076578
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079679 SCV000111562 benign not specified 2014-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079679 SCV000307889 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711367 SCV001944541 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV002515766 SCV002433022 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-02-01 criteria provided, single submitter clinical testing

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