ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.104G>A (p.Arg35His)

gnomAD frequency: 0.03247  dbSNP: rs34528912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553741 SCV000632390 benign Transcobalamin I deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001644631 SCV000884656 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001644631 SCV001858157 benign not provided 2019-01-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28334792)
Breakthrough Genomics, Breakthrough Genomics RCV001644631 SCV005324363 benign not provided criteria provided, single submitter not provided

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