ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3502-9C>A

gnomAD frequency: 0.00001  dbSNP: rs752128445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003525976 SCV001047547 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000903095 SCV001834128 benign not provided 2020-10-16 criteria provided, single submitter clinical testing

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