ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.1114A>G (p.Ile372Val)

gnomAD frequency: 0.00002  dbSNP: rs367928670
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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 RCV001517273 SCV001725746 benign Transcobalamin I deficiency 2023-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956181 SCV004770306 benign TCN1-related disorder 2020-02-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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