ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.301+20T>G

gnomAD frequency: 0.00098  dbSNP: rs201543087
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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 RCV001520945 SCV001730165 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003754908 SCV004564045 likely benign Patterned macular dystrophy 2 2023-01-24 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005232386 SCV005873288 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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