ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter)

dbSNP: rs1555912238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000677431 SCV000803738 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2018-06-21 no assertion criteria provided clinical testing

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