ClinVar Miner

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 RCV000119144 SCV000153860 benign Familial adenomatous polyposis 1 2018-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131961 SCV000187018 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
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 RCV000512763 SCV000602525 benign not provided 2017-05-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512763 SCV000609170 likely benign not provided 2017-05-31 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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