ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.690C>A (p.Ile230=)

dbSNP: rs779288271
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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 RCV001432440 SCV001635211 likely benign Transcobalamin II deficiency 2023-09-01 criteria provided, single submitter clinical testing

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