ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) (rs200756935)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120030 SCV000149027 likely benign not specified 2017-10-18 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.
Ambry Genetics RCV000115118 SCV000172875 likely benign Hereditary cancer-predisposing syndrome 2018-04-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification
Invitae RCV000168320 SCV000219005 benign Familial adenomatous polyposis 1 2018-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120030 SCV000600143 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034397 SCV000609172 uncertain significance not provided 2017-04-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515182 SCV000611341 uncertain significance Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 2017-05-23 criteria provided, single submitter clinical testing
Color RCV000115118 SCV000681842 likely benign Hereditary cancer-predisposing syndrome 2018-03-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034397 SCV000043137 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000120030 SCV000084161 not provided not specified 2013-09-19 no assertion provided reference population

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