ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)

gnomAD frequency: 0.00009  dbSNP: rs759047530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332437 SCV001524765 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2019-02-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002476549 SCV002784541 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003759046 SCV004387526 likely benign Rubinstein-Taybi syndrome 2023-10-17 criteria provided, single submitter clinical testing

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