ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2805C>T (p.Tyr935=) (rs137854575)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000211904 SCV000167003 benign not specified 2014-05-21 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 RCV000123663 SCV000213569 likely benign Hereditary cancer-predisposing syndrome 2014-08-29 criteria provided, single submitter clinical testing
Invitae RCV000679052 SCV000252581 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202773 SCV000257783 likely benign Familial multiple polyposis syndrome 2015-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211904 SCV000538291 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent, ClinVar: variant classified as benign by 2 labs; ExAC: 0.1% (51/66634) European chromosomes
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000211904 SCV000591120 benign not specified 2014-10-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211904 SCV000600068 likely benign not specified 2017-05-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000211904 SCV000602527 benign not specified 2016-12-10 criteria provided, single submitter clinical testing
Color RCV000123663 SCV000681552 likely benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679052 SCV000805385 likely benign not provided 2018-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679052 SCV000887511 benign not provided 2018-09-08 criteria provided, single submitter clinical testing
Mendelics RCV000987567 SCV001136899 likely benign Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679052 SCV001154459 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000211904 SCV000691726 likely benign not specified no assertion criteria provided clinical testing

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