ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5250C>G (p.Val1750=) (rs2229997)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000211920 SCV000167012 benign not specified 2014-03-19 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 RCV000131024 SCV000185952 benign Hereditary cancer-predisposing syndrome 2014-12-22 criteria provided, single submitter clinical testing
Invitae RCV000195661 SCV000252588 benign Familial adenomatous polyposis 1 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000211920 SCV000301597 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393053 SCV000452022 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000211920 SCV000591187 benign not specified 2012-04-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211920 SCV000600111 benign not specified 2017-07-24 criteria provided, single submitter clinical testing
Color RCV000131024 SCV000681718 benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755819 SCV000883404 benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755819 SCV000887533 benign not provided 2017-07-24 criteria provided, single submitter clinical testing

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