ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2593C>T (p.Pro865Ser) (rs192620988)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122764 SCV000166021 benign Familial adenomatous polyposis 1 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131163 SCV000186108 likely benign Hereditary cancer-predisposing syndrome 2019-01-25 criteria provided, single submitter clinical testing in silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneDx RCV000587302 SCV000209504 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27124905, 21859464, 14695993, 31159747)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000238728 SCV000297018 uncertain significance Familial multiple polyposis syndrome 2015-09-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348086 SCV000451998 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000122764 SCV000487865 uncertain significance Familial adenomatous polyposis 1 2015-11-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587302 SCV000600060 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587302 SCV000694015 likely benign not provided 2016-03-14 criteria provided, single submitter clinical testing
GeneKor MSA RCV000131163 SCV000821810 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131163 SCV000910647 likely benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Mendelics RCV000122764 SCV001136895 uncertain significance Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285433 SCV001471856 likely benign none provided 2019-10-08 criteria provided, single submitter clinical testing

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