ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)

dbSNP: rs770952413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620834 SCV001843113 benign not provided 2020-02-24 criteria provided, single submitter clinical testing
Invitae RCV002539567 SCV003321847 benign Rubinstein-Taybi syndrome 2023-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539566 SCV003685565 likely benign Inborn genetic diseases 2021-07-14 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.
PreventionGenetics, part of Exact Sciences RCV003966257 SCV004789551 likely benign CREBBP-related disorder 2022-02-23 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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