ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=)

dbSNP: rs370565083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501543 SCV000594220 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527227 SCV003461209 likely benign Rubinstein-Taybi syndrome 2022-08-21 criteria provided, single submitter clinical testing

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