ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=)

gnomAD frequency: 0.00001  dbSNP: rs1447337021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317410 SCV000850759 likely benign Inborn genetic diseases 2016-09-01 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 RCV002499320 SCV002810683 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534962 SCV002956790 likely benign Rubinstein-Taybi syndrome 2023-02-23 criteria provided, single submitter clinical testing

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