ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.249C>T (p.Cys83=)

gnomAD frequency: 0.00021  dbSNP: rs151327362
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 RCV000897852 SCV001042021 likely benign Transcobalamin II deficiency 2024-01-16 criteria provided, single submitter clinical testing

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