ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6907C>G (p.Leu2303Val)

dbSNP: rs144787962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003638619 SCV004510728 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-07-12 criteria provided, single submitter clinical testing
ITMI RCV000120723 SCV000084886 not provided not specified 2013-09-19 no assertion provided reference population

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