ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)

gnomAD frequency: 0.00438  dbSNP: rs112906840
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081062 SCV000112969 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081062 SCV000192902 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000081062 SCV000719927 benign not specified 2017-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002311612 SCV000846310 benign Inborn genetic diseases 2016-04-26 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000871098 SCV001012702 benign Rubinstein-Taybi syndrome 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727562 SCV004144964 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing CREBBP: PM5, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001727562 SCV005295917 benign not provided criteria provided, single submitter not provided
ITMI RCV000081062 SCV000084763 not provided not specified 2013-09-19 no assertion provided reference population
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081062 SCV001959977 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727562 SCV001968776 likely benign not provided no assertion criteria provided clinical testing

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