ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4311A>C (p.Ala1437=)

gnomAD frequency: 0.00150  dbSNP: rs150941761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002520056 SCV000770217 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001672613 SCV001886657 benign not provided 2019-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672613 SCV004153122 benign not provided 2023-10-01 criteria provided, single submitter clinical testing EP300: BP4, BP7, BS1, BS2

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