ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1168+18G>A

gnomAD frequency: 0.04073  dbSNP: rs3818120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248653 SCV000307879 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001683025 SCV001902442 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519907 SCV002343504 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683025 SCV005278880 benign not provided criteria provided, single submitter not provided

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