ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.1221A>C (p.Gly407=)

gnomAD frequency: 0.00052  dbSNP: rs571111927
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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 RCV002178599 SCV002479320 benign Transcobalamin I deficiency 2021-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933651 SCV004747865 likely benign TCN1-related disorder 2019-07-17 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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