ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.414C>T (p.Ala138=)

gnomAD frequency: 0.00005  dbSNP: rs542552676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316834 SCV000850598 likely benign Inborn genetic diseases 2017-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002534958 SCV003254851 benign Rubinstein-Taybi syndrome 2024-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918178 SCV004730366 likely benign CREBBP-related disorder 2023-08-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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