ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.375C>T (p.Thr125=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002349352 SCV002622309 likely benign Hereditary cancer-predisposing syndrome 2020-10-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003505216 SCV004282257 likely benign Oligodontia-cancer predisposition syndrome 2023-05-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003505216 SCV005082551 benign Oligodontia-cancer predisposition syndrome 2024-06-26 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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