ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter)

dbSNP: rs771755125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806355 SCV002053886 pathogenic Transcobalamin II deficiency criteria provided, single submitter clinical testing

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