ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.444G>C (p.Thr148=)

dbSNP: rs376779611
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003937341 SCV004766343 likely benign EP300-related condition 2022-01-28 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).

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