ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)

dbSNP: rs2053312234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003224974 SCV003921030 uncertain significance Congenital disorder of glycosylation type Ir 2023-03-29 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PM2_SUP, PM3_SUP, PP3

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