ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.918C>T (p.Phe306=)

gnomAD frequency: 0.00001  dbSNP: rs567457027
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002186822 SCV002341408 likely benign Transcobalamin II deficiency 2024-04-02 criteria provided, single submitter clinical testing

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