ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.174A>G (p.Leu58=)

gnomAD frequency: 0.00001  dbSNP: rs764601482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449226 SCV001652337 likely benign Transcobalamin II deficiency 2020-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905709 SCV004724446 likely benign TCN2-related disorder 2019-08-10 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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