ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.89T>G (p.Leu30Arg)

gnomAD frequency: 0.00388  dbSNP: rs116605132
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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 RCV000635261 SCV000756649 benign Transcobalamin II deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424208 SCV004154860 benign not provided 2023-02-01 criteria provided, single submitter clinical testing TCN2: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000635261 SCV004562048 likely benign Transcobalamin II deficiency 2023-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918015 SCV004733219 benign TCN2-related disorder 2019-05-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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