ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=)

gnomAD frequency: 0.00006  dbSNP: rs139365408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537587 SCV001050200 likely benign Rubinstein-Taybi syndrome 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000905610 SCV002563308 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CREBBP: BP4, BP7
Ambry Genetics RCV002336890 SCV002642652 likely benign Inborn genetic diseases 2018-01-19 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 RCV002502693 SCV002804910 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-04-28 criteria provided, single submitter clinical testing

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