ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1713-18G>A

gnomAD frequency: 0.00169  dbSNP: rs147664289
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123802 SCV000167145 benign not specified 2014-02-20 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 RCV002055428 SCV002418880 benign Oligodontia-cancer predisposition syndrome 2024-02-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000123802 SCV002551260 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114272 SCV003800284 benign not provided 2023-09-18 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002055428 SCV004016306 benign Oligodontia-cancer predisposition syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003114272 SCV005255543 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000123802 SCV000691780 likely benign not specified no assertion criteria provided clinical testing

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