ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.3809+9C>G

gnomAD frequency: 0.00066  dbSNP: rs373594610
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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 RCV002120264 SCV002404058 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002120264 SCV005222923 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003913705 SCV004733852 likely benign TONSL-related disorder 2023-10-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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