ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) (rs142047649)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081040 SCV000112947 benign not specified 2013-05-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429335 SCV000511718 likely benign not provided 2016-11-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000081040 SCV000512767 benign not specified 2016-10-18 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.
Invitae RCV000429335 SCV000629366 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716938 SCV000847783 likely benign History of neurodevelopmental disorder 2017-09-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign),Other data supporting benign classification
Mendelics RCV000989509 SCV001139922 benign Rubinstein-Taybi syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000081040 SCV000084748 not provided not specified 2013-09-19 no assertion provided reference population

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