ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.1254G>A (p.Gly418=)

gnomAD frequency: 0.00011  dbSNP: rs367985432
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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 RCV002073697 SCV002377722 likely benign not provided 2024-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002073697 SCV004224453 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923551 SCV004743823 likely benign TBCD-related disorder 2019-03-22 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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