ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)

dbSNP: rs1569118537
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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 RCV002245602 SCV000825483 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal carcinoma 2021-08-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816716 SCV002072240 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing

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