ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu)

gnomAD frequency: 0.00001  dbSNP: rs587778259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515848 SCV003447627 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-10-17 criteria provided, single submitter clinical testing
ITMI RCV000120724 SCV000084887 not provided not specified 2013-09-19 no assertion provided reference population

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