ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.291T>C (p.Thr97=)

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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 RCV003187359 SCV003853998 likely benign Hereditary cancer-predisposing syndrome 2023-01-19 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 RCV003615936 SCV004558563 likely benign Oligodontia-cancer predisposition syndrome 2023-09-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003615936 SCV005083362 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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