ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg)

gnomAD frequency: 0.00003  dbSNP: rs1263635747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092854 SCV001249559 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
New York Genome Center RCV002265941 SCV002548979 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2021-06-24 criteria provided, single submitter clinical testing

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