ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)

gnomAD frequency: 0.00056  dbSNP: rs61743653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974728 SCV001122578 likely benign Transcobalamin II deficiency 2024-01-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000974728 SCV001525948 uncertain significance Transcobalamin II deficiency 2018-11-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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