ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.172del (p.Val58fs)

gnomAD frequency: 0.01044  dbSNP: rs34530014
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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 RCV000962143 SCV001109210 benign Transcobalamin I deficiency 2022-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978385 SCV004786674 likely benign TCN1-related disorder 2024-07-22 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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