ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.924C>T (p.Asp308=)

gnomAD frequency: 0.00001  dbSNP: rs1376577981
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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 RCV001441905 SCV001644845 likely benign Transcobalamin II deficiency 2024-01-22 criteria provided, single submitter clinical testing

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