ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1075C>T (p.Leu359=)

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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 RCV003859552 SCV004659556 likely benign Transcobalamin II deficiency 2023-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004598282 SCV005092329 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TCN2: BP4, BP7

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