ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.413T>C (p.Met138Thr)

dbSNP: rs104894495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000015421 SCV004193706 likely pathogenic MPI-congenital disorder of glycosylation 2023-06-09 criteria provided, single submitter clinical testing
OMIM RCV000015421 SCV000035684 pathogenic MPI-congenital disorder of glycosylation 1998-06-01 no assertion criteria provided literature only

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