ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.648G>T (p.Gly216=)

dbSNP: rs2144583557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366936 SCV001563260 likely benign Oligodontia-cancer predisposition syndrome 2023-10-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259108 SCV002537215 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-10 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV001366936 SCV005082466 benign Oligodontia-cancer predisposition syndrome 2024-06-27 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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