ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) (rs387907097)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000024080 SCV001142170 uncertain significance Spinocerebellar ataxia 35 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000024080 SCV000045371 pathogenic Spinocerebellar ataxia 35 2010-12-01 no assertion criteria provided literature only
Fujian Institute of Hematology,Fujian Medical University RCV000077795 SCV000109629 pathogenic Acute myeloid leukemia no assertion criteria provided not provided Converted during submission to Pathogenic.
Codex Genetics Limited RCV000024080 SCV000996012 pathogenic Spinocerebellar ataxia 35 2019-02-28 no assertion criteria provided provider interpretation

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