ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5934G>A (p.Gly1978=)

gnomAD frequency: 0.00003  dbSNP: rs762125885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002717072 SCV003011095 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-08-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973470 SCV004789378 likely benign EP300-related disorder 2022-01-12 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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