ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.270C>T (p.Asp90=) (rs141655687)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123807 SCV000167150 benign not specified 2014-01-14 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.
Invitae RCV000205504 SCV000261588 benign Oligodontia-colorectal cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205504 SCV000405753 benign Oligodontia-colorectal cancer syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857998 SCV001151409 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016244 SCV001177178 likely benign Hereditary cancer-predisposing syndrome 2019-01-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000123807 SCV000691793 likely benign not specified no assertion criteria provided clinical testing

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