ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2359G>A (p.Gly787Ser)

gnomAD frequency: 0.00011  dbSNP: rs564786569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249192 SCV000307882 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519908 SCV002451246 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-27 criteria provided, single submitter clinical testing

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