ClinVar Miner

Submissions for variant NM_000038.6(APC):c.705A>G (p.Leu235=) (rs147036141)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077993 SCV000109830 benign not specified 2012-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000077993 SCV000167020 benign not specified 2014-01-27 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.
Ambry Genetics RCV000123677 SCV000212748 likely benign Hereditary cancer-predisposing syndrome 2014-07-24 criteria provided, single submitter clinical testing
Invitae RCV000679083 SCV000252593 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276575 SCV000451985 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000077993 SCV000591049 benign not specified 2013-02-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679083 SCV000602537 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Color RCV000123677 SCV000681844 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679083 SCV000805461 likely benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000077993 SCV000257028 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000123677 SCV000693488 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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