ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) (rs147287751)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129949 SCV000184772 likely benign Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);No disease association in appropriately sized case-control study(ies);Other data supporting benign classification
Invitae RCV000198030 SCV000254049 likely benign Familial adenomatous polyposis 1 2020-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000656753 SCV000292468 uncertain significance not provided 2021-01-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with colorectal cancer, colon polyp(s), and/or breast cancer (Tung 2015, Jelsig 2016, Dominguez-Valentin 2017, Yurgelun 2017); This variant is associated with the following publications: (PMID: 30122538, 27146957, 26580448, 16454848, 28135145, 25186627, 28608266)
Illumina Clinical Services Laboratory,Illumina RCV000283075 SCV000452057 uncertain significance APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000198030 SCV000488295 uncertain significance Familial adenomatous polyposis 1 2016-02-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000656753 SCV000600167 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515282 SCV000611342 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
PreventionGenetics,PreventionGenetics RCV000656753 SCV000805481 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Mendelics RCV000198030 SCV000838162 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000129949 SCV000902847 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000656753 SCV001918221 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000656753 SCV001954650 likely benign not provided no assertion criteria provided clinical testing

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