ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1056G>A (p.Gly352=)

gnomAD frequency: 0.00009  dbSNP: rs370869901
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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 RCV000884236 SCV001027597 likely benign Transcobalamin II deficiency 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948346 SCV004759737 likely benign TCN2-related disorder 2024-06-20 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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