ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6504G>A (p.Met2168Ile)

dbSNP: rs566357328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003638620 SCV004467804 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-08-09 criteria provided, single submitter clinical testing
ITMI RCV000120727 SCV000084890 not provided not specified 2013-09-19 no assertion provided reference population

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