ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.427+13C>T

gnomAD frequency: 0.00001  dbSNP: rs753858269
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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 RCV002138078 SCV002458114 likely benign Transcobalamin II deficiency 2021-10-01 criteria provided, single submitter clinical testing

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