ClinVar Miner

Submissions for variant NM_015409.5(EP400):c.3039C>T (p.Ile1013=)

gnomAD frequency: 0.01688  dbSNP: rs113601340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959385 SCV001106288 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000959385 SCV005237163 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915997 SCV004731499 likely benign EP400-related disorder 2020-02-17 no assertion criteria provided 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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