ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) (rs587778256)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) RCV000490777 SCV000297727 pathogenic Rubinstein-Taybi syndrome 2 2016-07-01 criteria provided, single submitter research
GeneDx RCV000120716 SCV000564967 likely benign not specified 2015-08-16 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 RCV000878165 SCV001021025 likely benign Rubinstein-Taybi syndrome 2; Colorectal cancer 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000120716 SCV000084878 not provided not specified 2013-09-19 no assertion provided reference population

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