ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1230T>C (p.Ala410=)

gnomAD frequency: 0.00001  dbSNP: rs1391122960
Minimum review status: Collection method:
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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 RCV002150282 SCV002417845 likely benign Transcobalamin II deficiency 2023-03-03 criteria provided, single submitter clinical testing

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