ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)

gnomAD frequency: 0.01088  dbSNP: rs61731376
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081047 SCV000112954 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311608 SCV000846410 benign Inborn genetic diseases 2016-04-18 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 RCV000870669 SCV001012194 benign Rubinstein-Taybi syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001682774 SCV001901270 benign not provided 2018-08-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504996 SCV002801168 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-04-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682774 SCV005295933 benign not provided criteria provided, single submitter not provided
ITMI RCV000081047 SCV000084753 not provided not specified 2013-09-19 no assertion provided reference population

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