Submissions for variant NM_000038.6(APC):c.4326T>A (p.Pro1442=) (rs67622085)

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Total submissions: 10

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081086	SCV000153860	benign	Familial adenomatous polyposis 1	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000131961	SCV000187018	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
PreventionGenetics,PreventionGenetics	RCV000254138	SCV000301594	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000361337	SCV000452010	benign	APC-Associated Polyposis Disorders	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000254138	SCV000591167	benign	not specified	2012-10-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000254138	SCV000602525	benign	not specified	2018-12-06	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000512763	SCV000609170	likely benign	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Color	RCV000131961	SCV000681660	benign	Hereditary cancer-predisposing syndrome	2016-03-17	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000254138	SCV000691748	likely benign	not specified		no assertion criteria provided	clinical testing
True Health Diagnostics	RCV000131961	SCV000693482	benign	Hereditary cancer-predisposing syndrome	2017-09-28	no assertion criteria provided	clinical testing

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