ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.475C>T (p.Leu159=)

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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 RCV003495058 SCV004307956 likely benign Transcobalamin II deficiency 2023-07-24 criteria provided, single submitter clinical testing

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