ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1905T>C (p.His635=)

gnomAD frequency: 0.00001  dbSNP: rs771764608
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602468 SCV000732132 likely benign not specified 2017-02-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000945169 SCV001091159 likely benign Oligodontia-cancer predisposition syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413769 SCV002723716 likely benign Hereditary cancer-predisposing syndrome 2019-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Myriad Genetics, Inc. RCV000945169 SCV005404559 benign Oligodontia-cancer predisposition syndrome 2024-07-08 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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