ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5723dup (p.Thr1909fs)

dbSNP: rs1555912182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Costain lab, The Hospital for Sick Children RCV000509056 SCV000606778 not provided Rubinstein-Taybi syndrome due to EP300 haploinsufficiency no assertion provided literature only

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