ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2439G>A (p.Pro813=)

gnomAD frequency: 0.00007  dbSNP: rs763702839
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564076 SCV001787179 likely benign not provided 2021-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001564076 SCV002063486 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458531 SCV002737236 likely benign Inborn genetic diseases 2018-09-15 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 RCV002495900 SCV002795784 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573186 SCV003015322 likely benign Rubinstein-Taybi syndrome 2023-09-07 criteria provided, single submitter clinical testing

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