ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1086G>A (p.Leu362=)

dbSNP: rs905233208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001277751 SCV002396702 likely benign MPI-congenital disorder of glycosylation 2023-09-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277751 SCV001464720 uncertain significance MPI-congenital disorder of glycosylation 2020-04-19 no assertion criteria provided clinical testing

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