ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.345+15_345+16delinsAT

dbSNP: rs1064794476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478630 SCV000569268 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001371519 SCV001568089 likely benign MPI-congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001371519 SCV002813213 likely benign MPI-congenital disorder of glycosylation 2021-08-11 criteria provided, single submitter clinical testing

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