ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) (rs1555911313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622438 SCV000742545 pathogenic Inborn genetic diseases 2017-05-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
SickKids Clinical Genetics Group,The Hospital for Sick Children RCV000509055 SCV000606801 not provided Rubinstein-Taybi syndrome 2 no assertion provided clinical testing

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