ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4237A>G (p.Met1413Val) (rs141519952)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000589855 SCV000166034 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131786 SCV000186835 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000120015 SCV000209524 likely benign not specified 2018-02-28 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120015 SCV000538299 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Classified within the last year. Didn't undergo full assessment. Seen in 7 papers, including in unaffected individuals and homozygous in one patient. MaxMAF .132% (but only 758 chrs). AA not conserved - Val seen in hamster.
Integrated Genetics/Laboratory Corporation of America RCV000589855 SCV000694048 benign not provided 2016-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000122777 SCV000838113 likely benign Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000131786 SCV000902669 benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
ITMI RCV000120015 SCV000084145 not provided not specified 2013-09-19 no assertion provided reference population
CSER_CC_NCGL; University of Washington Medical Center RCV000148358 SCV000190048 likely benign Colorectal adenoma 2014-06-01 no assertion criteria provided research

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