ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)

gnomAD frequency: 0.00116  dbSNP: rs144832179
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176670 SCV000228361 likely benign not specified 2014-10-02 criteria provided, single submitter clinical testing
Invitae RCV000871285 SCV001012908 benign Rubinstein-Taybi syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001651041 SCV001862704 benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326966 SCV002627489 likely benign Inborn genetic diseases 2017-12-22 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.
Fulgent Genetics, Fulgent Genetics RCV002503675 SCV002810616 benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977438 SCV004800670 likely benign CREBBP-related disorder 2021-06-17 criteria provided, single submitter 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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