ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1086C>G (p.Ala362=)

gnomAD frequency: 0.00001  dbSNP: rs553587653
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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 RCV000940584 SCV001086448 likely benign Transcobalamin II deficiency 2024-01-26 criteria provided, single submitter clinical testing

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