ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)

dbSNP: rs1596784713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420346 SCV001622766 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PVS1_strong;PM2_supporting;PM6_moderate
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000856886 SCV000999486 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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