ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) (rs149353082)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120024 SCV000148991 likely benign not specified 2017-12-01 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.
Counsyl RCV000411300 SCV000487902 uncertain significance Familial adenomatous polyposis 1 2015-12-04 criteria provided, single submitter clinical testing
Invitae RCV000411300 SCV000552651 likely benign Familial adenomatous polyposis 1 2019-12-26 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120024 SCV000591138 uncertain significance not specified 2016-07-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985246 SCV000600080 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565031 SCV000667245 likely benign Hereditary cancer-predisposing syndrome 2018-09-10 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;in silico models in agreement (benign);Other data supporting benign classification
Color RCV000565031 SCV000681594 likely benign Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154639 SCV001316017 likely benign APC-Associated Polyposis Disorders 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000120024 SCV000084155 not provided not specified 2013-09-19 no assertion provided reference population
3DMed Clinical Laboratory Inc RCV000677784 SCV000803940 uncertain significance Carcinoma of colon 2018-01-29 no assertion criteria provided clinical testing

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