ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1125G>A (p.Gly375=)

gnomAD frequency: 0.00016  dbSNP: rs552854858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489285 SCV001693824 likely benign MPI-congenital disorder of glycosylation 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001489285 SCV002089793 benign MPI-congenital disorder of glycosylation 2019-10-22 no assertion criteria provided clinical testing

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