ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.345+16C>T

gnomAD frequency: 0.01224  dbSNP: rs143242949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080013 SCV000111906 benign not specified 2012-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000080013 SCV000520644 benign not specified 2016-04-25 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.
Counsyl RCV000668556 SCV000793178 benign MPI-congenital disorder of glycosylation 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000668556 SCV002399777 benign MPI-congenital disorder of glycosylation 2023-09-13 criteria provided, single submitter clinical testing

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