ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.65-17C>T

gnomAD frequency: 0.01306  dbSNP: rs77763564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523511 SCV001733223 benign Transcobalamin II deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001523511 SCV004562929 benign Transcobalamin II deficiency 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713019 SCV005274004 benign not provided criteria provided, single submitter not provided

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