ClinVar Miner

Submissions for variant NM_000038.6(APC):c.573T>C (p.Tyr191=) (rs185154886)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197836 SCV000252589 benign Familial adenomatous polyposis 1 2020-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309947 SCV000451983 likely benign APC-Associated Polyposis Disorders 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001701788 SCV000516690 likely benign not provided 2019-12-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26447891, 27028212, 26900293)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000426052 SCV000600118 likely benign not specified 2017-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573062 SCV000667229 likely benign Hereditary cancer-predisposing syndrome 2015-01-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Health, Inc RCV000573062 SCV000681759 benign Hereditary cancer-predisposing syndrome 2016-03-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701788 SCV001930653 likely benign not provided no assertion criteria provided clinical testing

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