ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro)

gnomAD frequency: 0.02418  dbSNP: rs1046088
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079681 SCV000111564 benign not specified 2013-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079681 SCV000307893 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002514402 SCV000650102 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001538102 SCV001755710 benign not provided 2019-10-11 criteria provided, single submitter clinical testing
ITMI RCV000079681 SCV000084881 not provided not specified 2013-09-19 no assertion provided reference population

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