ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.64+11C>T

gnomAD frequency: 0.00203  dbSNP: rs141519384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336624 SCV000437869 uncertain significance Transcobalamin II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000336624 SCV001719680 benign Transcobalamin II deficiency 2024-01-31 criteria provided, single submitter clinical testing

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