ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.471A>G (p.Pro157=)

gnomAD frequency: 0.00001  dbSNP: rs770598337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733013 SCV000861022 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003638706 SCV004455420 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-18 criteria provided, single submitter clinical testing

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