Submissions for variant NM_000038.6(APC):c.5952T>C (p.Asn1984=) (rs142019870)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 7

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000432139	SCV000523758	likely benign	not specified	2016-01-26	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.
Invitae	RCV000469890	SCV000562598	likely benign	Familial adenomatous polyposis 1	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566862	SCV000672555	likely benign	Hereditary cancer-predisposing syndrome	2017-01-06	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
Color	RCV000566862	SCV000904169	likely benign	Hereditary cancer-predisposing syndrome	2018-08-07	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001155578	SCV001317015	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Integrated Genetics/Laboratory Corporation of America	RCV000432139	SCV001372266	likely benign	not specified	2020-06-27	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000432139	SCV000691759	likely benign	not specified		no assertion criteria provided	clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.