ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2004G>A (p.Gly668=) (rs144092307)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233077 SCV000288687 likely benign Oligodontia-colorectal cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000583675 SCV000730153 likely benign not specified 2017-12-18 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 RCV001014036 SCV001174694 likely benign Hereditary cancer-predisposing syndrome 2018-10-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000233077 SCV001280677 benign Oligodontia-colorectal cancer syndrome 2017-05-21 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000583675 SCV000691776 likely benign not specified no assertion criteria provided clinical testing

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