ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.846C>T (p.Ser282=)

gnomAD frequency: 0.29591  dbSNP: rs1042613
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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 RCV001516104 SCV001724324 benign Transcobalamin I deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001619918 SCV001842745 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619918 SCV005324359 benign not provided criteria provided, single submitter not provided

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