ClinVar Miner

Submissions for variant NM_015409.5(EP400):c.8181A>G (p.Gln2727=)

gnomAD frequency: 0.09491  dbSNP: rs10902490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000948913 SCV001095140 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000948913 SCV001897337 benign not provided 2020-04-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983296 SCV004796287 likely benign EP400-related disorder 2021-06-19 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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