ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.257+16C>G

gnomAD frequency: 0.00028  dbSNP: rs369577877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002152696 SCV002416657 likely benign Transcobalamin II deficiency 2023-12-17 criteria provided, single submitter clinical testing

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