ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) (rs2229995)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077994 SCV000109831 benign not specified 2012-08-22 criteria provided, single submitter clinical testing
Invitae RCV000034399 SCV000153849 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000077994 SCV000167015 benign not specified 2013-10-14 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 RCV000157722 SCV000212882 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239067 SCV000297025 benign Familial multiple polyposis syndrome 2015-08-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077994 SCV000301605 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307201 SCV000452046 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000157722 SCV000537375 benign Hereditary cancer-predisposing syndrome 2015-03-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000077994 SCV000591209 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000077994 SCV001156605 benign not specified 2018-07-30 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034399 SCV000043139 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000077994 SCV000084177 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000077994 SCV000691766 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000157722 SCV000693490 benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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