ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3732A>G (p.Gln1244=) (rs74380081)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757001 SCV000885021 benign not provided 2018-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162515 SCV000212907 benign Hereditary cancer-predisposing syndrome 2014-08-14 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
Color RCV000162515 SCV000681629 benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500807 SCV000591154 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000500807 SCV000700377 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260692 SCV000452008 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206710 SCV000261927 benign Familial adenomatous polyposis 1 2018-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000500807 SCV000691742 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000500807 SCV000805402 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162515 SCV000787835 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing

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