ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=)

gnomAD frequency: 0.00117  dbSNP: rs141869477
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313607 SCV000848738 likely benign Inborn genetic diseases 2017-01-13 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 RCV000959822 SCV001106756 benign Rubinstein-Taybi syndrome 2025-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001613445 SCV001837079 benign not provided 2020-02-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613445 SCV005217363 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003938072 SCV004756419 likely benign CREBBP-related disorder 2019-09-17 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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