ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6372C>T (p.Val2124=)

gnomAD frequency: 0.01700  dbSNP: rs34985152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145960 SCV000193103 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515962 SCV000660387 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001610445 SCV001841732 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610445 SCV005278922 benign not provided criteria provided, single submitter not provided

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