ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3370-17A>T

gnomAD frequency: 0.00007  dbSNP: rs767500889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002116537 SCV002444130 likely benign Rubinstein-Taybi syndrome 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486940 SCV002800455 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-12-01 criteria provided, single submitter clinical testing

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